Long COVID Symptoms
March 9, 2022Tables that contain HPO IDs, references, labels, definitions, synonyms, and plain-language labels and definitions for the 255 HPO terms used in this work. HPO ancestral terms are used in some cases due to the unavailability of gene association data for certain phenotypic abnormalities.
Immunology- Autoimmunity
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Anaphylactic shock (HP:0100845) | An acute hypersensitivity reaction due to exposure to a previously encountered antigen. | Anaphylaxis | Anaphylaxis | A severe allergic reaction that may result in swelling, hives, lowered blood pressure and in severe cases, shock. | (Chen et al., 2022; Knight et al., 2021) |
| Antinuclear antibody positivity (HP:0003493) | The presence of autoantibodies in the serum that react against nuclei or nuclear components. | Antinuclear antibody positive; Serum antinuclear antibody; Antinuclear antibodies; Elevated antinuclear antibody | Antinuclear antibody | An autoantibody is a kind of antibody that is directed against a substance made by one’s own body (usually, antibodies are directed against external agents such as bacteria). This term refers to autoantibodies directed against components of the nucleus of the cell. | (Chen et al., 2022; Knight et al., 2021) |
| Anti-thyroid peroxidase antibody positivity (HP:0025379) | The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. | – | Anti-thyroid peroxidase antibody | An autoantibody is a kind of antibody that is directed against a substance made by one’s own body (usually, antibodies are directed against external agents such as bacteria). This term refers to an autoantibody directed against the protein thyroid peroxidase. | (Chen et al., 2022; Knight et al., 2021) |
| Anti-thyroglobulin antibody positivity (HP:0032069) | The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. | – | Anti-thyroglobulin antibody | An autoantibody is a kind of antibody that is directed against a substance made by one’s own body (usually, antibodies are directed against external agents such as bacteria). This term refers to an autoantibody directed against the protein thyroglobulin. | (Czarnocka, 2011) |
| Lymphadenopathy (HP:0002716) | Enlargement (swelling) of a lymph node. | Swollen lymph nodes; Lymph node hyperplasia | Swollen lymph nodes | Swollen lymph nodes. | (Chen et al., 2022; Knight et al., 2021) |
| Lymphopenia (HP:0001888) | A reduced number of lymphocytes in the blood. | Absolute lymphocyte count decrease; Low lymphocyte number; Decreased blood lymphocyte number; Lymphocytopenia | Low lymphocyte count | A decreased number of lymphocytes (a type of white blood cell) in the blood. | (Chen et al., 2022; Knight et al., 2021) |
Dermatological Finding
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Alopecia (HP:0001596) | A noncongenital process of hair loss, which may progress to partial or complete baldness. | Hair loss | Hair loss | Hair loss. | (Zlotogorski et al., 2003) |
| Dermatographic urticaria (HP:0011971) | An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). | Dermatographism; Skin writing; Dermographism | Skin writing | A condition in which any scratch or pressure applied to the skin results in an exaggerated, rash-like reaction. | (Thuangtong et al., 2021) |
| Flushing (HP:0031284) | Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. | – | Flushing | Involuntary, temporary reddening of the skin of the face or neck. | (Thuangtong et al., 2021) |
| Fragile nails (HP:0001808) | Nails that easily break. | Brittle nails | Brittle nails | Nails that easily break. | (Thuangtong et al., 2021) |
| Hyperhidrosis (HP:0000975) | Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. | Diaphoresis; Sweating; Excessive sweating; Sweating profusely; Sweating, increased; Increased sweating; Profuse sweating | Excessive sweating | Excessive sweating even when weather is not hot | (Thuangtong et al., 2021) |
| Inflammatory abnormality of the skin (HP:0011123) | 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. | Dermatitis; Abnormal tendency to infections of the skin; Inflammatory abnormality of the skin; Inflammatory skin disease; Skin inflammation | Skin inflammation | A sign of an immune response in the body. | (Thuangtong et al., 2021) |
| Petechiae (HP:0000967) | Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. | – | Tiny purple spots on skin | Pinpoint-sized reddish or purplish spots containing blood that appear in the skin or mucous membrane as a result of localized bleeding. | (McGrath & Barrett, 2022) |
| Pruritus (HP:0000989) | Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. | Skin itching; Itching; Itchy skin; pruritis | Itchy skin | Itchy skin. | (Thuangtong et al., 2021) |
| Scaling skin (HP:0040189) | Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. | peeling skin; flaking skin; Scaly skin; Desquamation | Peeling skin | Peeling skin | (Thuangtong et al., 2021) |
| Skin rash (HP:0000988) | A red eruption of the skin. | Rash | Rash | Rash. | (Thuangtong et al., 2021) |
Reproductive, Genitourinary, Endocrine and Metabolism
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormal female reproductive system physiology (HP:0030012) | Any functional anomaly of the organs associated with producing offspring. | Abnormal female reproductive system physiology; Abnormal female genital system physiology | Abnormal female reproductive system physiology | Problems with sex organs. | (Liu et al., 2021) |
| Decreased glomerular filtration rate (HP:0012213) | An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman’s capsules per unit of time. | Decreased GFR; Reduced creatinine clearance; Impaired renal creatinine clearance | Decreased GFR | A reduction in the filter function of the kidneys (i.e., in the function of the glomeruli, the tiny filters of the kidney that normally remove waste from the blood). | (Bowe, Xie, Xu, & Al-Aly, 2021; Levey, Becker, & Inker, 2015) |
| Diabetes mellitus (HP:0000819) | A group of abnormalities characterized by hyperglycemia and glucose intolerance. | – | Diabetes | A disease characterized by high blood sugar. | (Raveendran & Misra, 2021) |
| Abnormality of the digestive system (HP:0025031) | Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. | – | Digestive abnormalities | Digestive system problems; gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. | (Cao et al., 2021) |
| Edema (HP:0000969) | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. | Dropsy; Oedema; Hydrops; Water retention; Fluid retention | Water retention | Swelling of a body part related to leakage of fluid from small blood vessels into tissues. | (Proal & VanElzakker, 2021) |
| Female sexual dysfunction (HP:0030014) | A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity | – | Female sexual dysfunction | Problems with sexual response, desire, orgasm, or pain. | (Liu et al., 2021) |
| Fever (HP:0001945) | Body temperature elevated above the normal range. | Pyrexia; Hyperthermia | Fever | Body temperature above the normal range. | (Mackowiak, 1998) |
| Heat intolerance (HP:0002046) | The inability to maintain a comfortable body temperature in warm or hot weather. | Intolerance to heat and fevers | Heat intolerance | The inability to maintain a comfortable body temperature in warm or hot weather. | (Mackowiak, 1998) |
| Hypothermia (HP:0002045) | Reduced body temperature due to failed thermoregulation. | Abnormally low body temperature | Low body temperature | Abnormally low body temperature, defined as 35.0 degrees C (95.0 degrees F) or less. | (Mackowiak, 1998) |
| Irregular menstruation (HP:0000858) | Abnormally high variation in the amount of time between periods. | Menstrual irregularity; Irregular periods; Menstrual irregularities; Irregular menses | Irregular menstruation | Increased variation in the amount of time between periods. | (Foster & Al-Zubeidi, 2018) |
| Low-grade fever (HP:0011134) | Mild fever that does not exceed 38.5 degrees centigrade. | Mild fever | Mild fever | Mild fever that does not exceed 38.5 degrees centigrade. | (Mackowiak, 1998) |
| Male sexual dysfunction (HP:0040307) | A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity | – | Male sexual dysfunction | Problems with sexual response, desire, orgasm, or pain. | (Lotti & Maggi, 2018) |
| Menorrhagia (HP:0000132) | Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. | Abnormally heavy periods; Hypermenorrhea; Abnormally heavy bleeding during menstruation | Abnormally heavy periods | Abnormally heavy bleeding during menstruation. | (Davidson, Dipiero, Govoni, Littleton, & Neal, 2012) |
| Pancreatitis (HP:0001733) | The presence of inflammation in the pancreas. | Pancreatic inflammation | Pancreatitis | Inflammation of the pancreas | (Cao et al., 2021) |
| Recurrent fever (HP:0001954) | Periodic (episodic or recurrent) bouts of fever. | Increased body temperature, episodic; Episodic fever; Hyperthermia, episodic; Intermittent fever | Periodic fever | Periodic (episodic or recurrent) bouts of fever. | (Mackowiak, 1998) |
| Renal insufficiency (HP:0000083) | 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. | Renal failure; Renal failure in adulthood | Renal failure | Reduced function of the kidney. | (Bowe et al., 2021) |
| Temperature instability (HP:0005968) | Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. | Body temperature instability | Body temperature instability | Instability of body temperature. | (Mackowiak, 1998) |
| Urinary incontinence (HP:0000020) | Loss of the ability to control the urinary bladder leading to involuntary urination. | Bladder incontinence; Loss of bladder control | Urinary incontinence | Not able to control urine/pee; Urine/pee leak. | (Abrams et al., 2003; Bowe et al., 2021) |
HEENT (Head, Eyes, Ears, Nose, Throat) -Ear
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Ear pain (HP:0030766) | Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). | Otalgia; Pain in the ear | Ear pain | Pain in the ear. | (Neilan & Roland, 2010) |
| Hearing impairment (HP:0000365) | A decreased magnitude of the sensory perception of sound. | Hearing loss; Hearing defect; Hypoacusis; Hypacusis; Deafness | Hearing loss | Decreased ability to hear sounds. | (Jafari, Kolb, & Mohajerani, 2022) |
| Hyperacusis (HP:0010780) | Over-sensitivity to certain frequency ranges of sound. | Loudness intolerance; Sensitivity to noise | Loudness intolerance | Oversensitivity to sound. | (Baguley, 2003; Radziwon et al., 2019; Schaaf, Klofat, & Hesse, 2003) |
| Pulsatile tinnitus (HP:0008629) | Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. | – | Rhythmic ringing in the ears | Rhythmic thumping or whooshing sound heard in the ear that is caused by a patient’s heartbeat or pulse. | (Hofmann, Behr, Neumann-Haefelin, & Schwager, 2013) |
| Tinnitus (HP:0000360) | Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. | Ringing in ears; Ringing in the ears | Ringing in the ears | Hearing ringing or buzzing in the ear that is not caused by external sound. | (Jafari et al., 2022) |
| Vertigo (HP:0002321) | An abnormal sensation of spinning while the body is actually stationary. | Dizziness; Dizzy spell | Dizziness | The feeling of spinning when the body is still. | (Jafari et al., 2022; Motawea & Monib, 2021) |
HEENT (Head, Eyes, Ears, Nose, Throat)-ENT
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Dysphonia (HP:0001618) | An impairment in the ability to produce voice sounds. | Inability to produce voice sounds; Voice change | Voice change | A change in the sound or quality of the voice. | (Lechien, Saussez, Vaira, & Hans, 2021) |
| Nasal congestion (HP:0001742) | Reduced ability to pass air through the nasal cavity often leading to mouth breathing. | Nasal blockage; Nasal obstruction; Blockage of nose; Stuffy nose; Congestion of nose; Obstruction of nose | Stuffy nose | Stuffy nose. | (El Anwar, Eesa, Mansour, Zake, & Hendawy, 2021) |
| Abnormality of the pharynx (HP:0000600) | An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. | – | Throat problems | Throat problems. | (Merenstein et al., 2021) |
| Rhinitis (HP:0012384) | Inflammation of the nasal mucosa with nasal congestion. | Nasal inflammation | Runny nose | Runny nose. | (El Anwar et al., 2021) |
HEENT (Head, Eyes, Ears, Nose, Throat) -Eye
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Blindness (HP:0000618) | 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. | Legal blindness; Total vision loss | Blindness | The complete loss of vision. | (Bourne et al., 2017) |
| Blurred vision (HP:0000622) | Lack of sharpness of vision resulting in the inability to see fine detail. | – | Blurred vision | Vision that is blurry or lacks clarity/sharpness. | (Rokohl et al., 2021) |
| Conjunctivitis (HP:0000509) | Inflammation of the conjunctiva. | Pink eye; Conjunctivitis, recurrent | Conjunctivitis | Inflammation or infection of the outer lining of the eyeball resulting in “pink eye” appearance. | (Bukulmez, 2021; Rokohl et al., 2021) |
| Diplopia (HP:0000651) | Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. | Double vision | Double vision | Double vision. | (Ben-David et al., 2021) |
| Gaze-evoked nystagmus (HP:0000640) | Nystagmus made apparent by looking to the right or to the left. | – | Nystagmus triggered by gaze | Repetitive, involuntary, to-and-fro oscillation of the eyes that is triggered by looking in a certain direction. | (Rokohl et al., 2021) |
| Keratoconjunctivitis sicca (HP:0001097) | 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. | Keratitis sicca; Dry eye syndrome; Xerophthalmia; Dry eyes | Keratoconjunctivitis sicca (a form of dry eyes) | Dryness of the eye due to inadequate tears, which may cause feelings of irritation, itching, burning, or the sensation of a foreign body in the eye. | (Rokohl et al., 2021) |
| Ocular pain (HP:0200026) | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. | Eye pain | Eye pain | Physical discomfort or pain felt in the eye. | (Kurçaloğlu et al., 2021; Rokohl et al., 2021) |
| Peripheral visual field loss (HP:0007994) | Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. | Loss of peripheral vision; Tunnel vision; Kalnienk vision | Tunnel vision | Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. | (Rokohl et al., 2021) |
| Photophobia (HP:0000613) | Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. | Photodysphoria; Light hypersensitivity; Extreme sensitivity of the eyes to light | Photophobia | Excessive sensitivity to light. | (Rokohl et al., 2021) |
| Red eye (HP:0025337) | 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. | Red eyes | Red eye | Redness of the eye related to inflammation. | (Rokohl et al., 2021) |
| Visual loss (HP:0000572) | Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise, the term reduced visual acuity should be used (or a subclass of that). | Vision loss; Loss of vision | Vision loss | Vision loss. | (Bourne et al., 2017) |
| Vitreous floaters (HP:0100832) | Deposits of various size, shape, consistency, refractive index, and motility within the eye’s vitreous humour, which is normally transparent. | Eye floaters; Flitting flies; Spots in front of eyes; Mouches volantes; Vitreous condensations; Myodesopsia; Vitreous opacities; Vitreous debris; Vitreous veils; Myodeopsia | Eye floaters | Eye floaters are spots that appear to float in the field of vision and typically drift about rather than staying in the same place. | (Rokohl et al., 2021) |
Lab
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormal calcium-phosphate regulating hormone level (HP:0100530) | Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. | Abnormal Ca2+ PO4 regulating hormone level, Abnormal Ca-PHOS regulating hormone level | Abnormal Ca2+ PO4 regulating hormone level | Fluctuation in the blood concentration of the hormone responsible for phosphate and calcium regulation. | (P. Malik et al., 2021) |
| Abnormal circulating protein concentration (HP:0010876) | An abnormal level of a circulating protein in the blood. | Abnormality of circulating protein level, Serum protein abnormality, Blood protein disease, Abnormal circulating protein level | Abnormal circulating protein level | A changed concentration of a circulating protein in the blood. | (P. Malik et al., 2021) |
| Abnormality of fibrinolysis (HP:0040224) | Clinical phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis). | Abnormality of the fibrinolytic system | Abnormality of fibrinolysis | Delay in fibrinolysis; a process that prevents blood clots from growing and becoming problematic. | (Meizoso, Moore, & Moore, 2021) |
| Decreased circulating calcifediol concentration (HP:0012053) | A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. | Low serum 25-hydroxycholecalciferol; Decreased 25-hydroxyvitamin D3; Low serum calcidiol; Low serum calcifediol | Low 25-hydroxyvitamin D3 level | A reduced concentration of calcifediol in the blood. Calcifediol is a form of vitamin D. | (Jo et al., 2021) |
| Elevated circulating alkaline phosphatase concentration (HP:0003155) | Abnormally increased serum levels of alkaline phosphatase activity. | Increased serum alkaline phosphatase; Increased alkaline phosphatase; Elevated alkaline phosphatase; High serum alkaline phosphatase; Hypophosphatasia; Elevated ALP; Greatly elevated alkaline phosphatase; Hyperphosphatasemia | High alkaline phosphatase level | An increased level of alkaline phosphatase in the blood. High alkaline phosphatase levels can be found due to many different causes including liver damage or bone disorders. | (Lowe, Sanvictores, & John, 2021) |
| Elevated circulating alanine aminotransferase concentration (HP:0031964) | An abnormally high concentration in the circulation of alanine aminotransferase (ALT). | Elevated serum ALT; Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum glutamic-pyruvic transaminase | High ALT level | An increased level of alanine aminotransferase (ALT) in the blood. High ALT levels may indicate damage or disease in the liver. | (Kim, Flamm, Di Bisceglie, & Bodenheimer, 2008) |
| Elevated circulating aspartate aminotransferase concentration (HP:0031956) | An abnormally high concentration in the circulation of aspartate aminotransferase (AST). | Elevated serum glutamic oxaloacetic transaminase; Elevated serum AST; Aspartate aminotransferase increased; Elevated serum aspartate aminotransferase | High AST level | An increased level of aspartate aminotransferase (AST) in the blood. High AST levels may indicate damage or disease in the liver. | (Fernández Carrillo et al., 2021) |
| Elevated circulating creatinine concentration (HP:0003259) | An increased amount of creatinine in the blood. | High blood creatinine level; Elevated serum creatinine; Increased creatinine; Increased serum creatinine; Elevated creatinine | High creatinine level | An increased level of creatinine in the blood. High creatinine levels can indicate impaired kidney function or kidney disease. | (P. Malik et al., 2021) |
| Elevated circulating creatine kinase concentration (HP:0003236) | An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. | Elevated serum CPK; Increased CPK; Increased serum creatine phosphokinase; Elevated serum creatine phosphokinase; Increased creatine phosphokinase; High serum creatine kinase; Increased serum CK; Increased creatine kinase; Elevated creatine kinase; Increased serum creatine kinase; Elevated circulating creatine phosphokinase; Elevated serum creatine kinase; Elevated blood creatine phosphokinase | High CK level | An increased level of creatine kinase (CK) in the blood. Increased CK levels may indicate damage or disease of the skeletal muscles, heart, or brain. | (P. Malik et al., 2021) |
| Elevated circulating C-reactive protein concentration (HP:0011227) | An abnormal elevation of the C-reactive protein level in the blood circulation. | Elevated CRP; Elevated C-reactive protein level | High CRP level | An increased level of C-reactive protein (CRP) in the blood. CRP is a marker for inflammation. | (Nehring, Goyal, Bansal, & Patel, 2021) |
| Elevated circulating thyroid-stimulating hormone concentration (HP:0002925) | Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. | Elevated thyroid stimulating hormone levels; Increased thyroid-stimulating hormone level; Increased thyroid-stimulating hormone; Increased serum thyroid-stimulating hormone; Increased thyrotropin level; TSH excess; Elevated thyroid stimulating hormone; Thyroid-stimulating hormone excess; High TSH | High TSH level | An increased level of thyroid-stimulating hormone (TSH) in the blood. High TSH levels can be observed in a number of diseases affecting the thyroid. | (Beltrão et al., 2021) |
| Elevated erythrocyte sedimentation rate (HP:0003565) | 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. | Raised erythrocyte sedimentation rate; Increased erythrocyte sedimentation rate; Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR | Elevated ESR | An increased erythrocyte sedimentation rate (ESR). High ESR values may indicate inflammation. | (Brigden, 1999) |
| Elevated gamma-glutamyltransferase level (HP:0030948) | Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. | Elevated serum GGT | High GGT level | An increased level of gamma-glutamyltransferase (GGT) in the blood. High GGT levels can indicate liver or bile duct disease. | (Koenig & Seneff, 2015) |
| Hypocalcemia (HP:0002901) | An abnormally decreased calcium concentration in the blood. | Low blood calcium levels; Hypocalcaemia | Low calcium level | A low level of calcium in the blood. | (di Filippo, Doga, Frara, & Giustina, 2022) |
| Hypofibrinogenemia (HP:0011900) | Decreased concentration of fibrinogen in the blood. | Low fibrinogen level; Low fibrinogen activity | Low fibrinogen level | A low level of fibrinogen in the blood. | (Meizoso et al., 2021) |
| Hyperglycemia (HP:0003074) | An increased concentration of glucose in the blood. | High blood glucose; High blood sugar | High blood sugar | Increased blood sugar level. | (Raveendran & Misra, 2021) |
| Hypoglycemia (HP:0001943) | A decreased concentration of glucose in the blood. | Hypoglycaemia; Low blood sugar | Low blood sugar | Decreased blood sugar level. | (Raveendran & Misra, 2021) |
| Hypophosphatemia (HP:0002148) | An abnormally decreased phosphate concentration in the blood. | Low blood phosphate level; Hypophosphataemia | Low phosphate level | A low level of phosphate in the blood. | (R. Wang, He, & Kang, 2021) |
| Increased circulating ferritin concentration (HP:0003281) | Increased concentration of ferritin in the blood circulation. | High ferritin level; Increased serum ferritin level; Elevated serum ferritin; Increased ferritin; Hyperferritinemia; Increased plasma ferritin; Hyperferritinaemia | High ferritin level | An increased level of ferritin in the blood. Ferritin is a ubiquitous intracellular protein that stores iron. Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with inflammation. | (Alroomi et al., 2021) |
| Increased circulating interleukin 6 (HP:0030783) | An increased concentration of interleukin-6 in the circulation. | Increased serum IL-6; Increased serum interleukin-6 | High IL6 level | An elevated level of interleukin-6 (IL6) in the bloodstream. High IL6 levels may indicate ongoing inflammation. | (Robak, Gladalska, Stepień, & Robak, 1998) |
| Increased circulating lactate dehydrogenase concentration (HP:0025435) | An elevated level of the enzyme lactate dehydrogenase in the blood circulation. | Increased lactate dehydrogenase level | High LDH level | An increased level of lactate dehydrogenase (LDH) in the blood. LDH is a nonspecific marker of tissue damage and can rise with problems in the blood, heart, kidneys, brain, or lungs. | (P. Malik et al., 2021) |
| Increased circulating NT-proBNP concentration (HP:0031185) | An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP). | Increased NT-proBNP level | High NT-proBNP level | An increased level of NT-proBNP in the blood. High NT-proBNP levels may indicate disease or damage to the heart. | (P. Malik et al., 2021) |
| Thrombocytopenia (HP:0001873) | A reduction in the number of circulating thrombocytes. | Low platelet count | Low platelet count | A decreased number of platelets in the blood. | (Franchini, Liumbruno, & Pezzo, 2021) |
General- Pain
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Arthralgia (HP:0002829) | Joint pain. | Joint pains; Arthralgias; Arthritic pain; Joint pain | Joint Pain | Joint Pain | (Kurçaloğlu et al., 2021; Marinangeli, Giarratano, & Petrini, 2021) |
| Back pain (HP:0003418) | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. | Back pain | Back pain | Physical discomfort (such as pricking, throbbing, or aching) localized to the back. | (Kurçaloğlu et al., 2021; Marinangeli et al., 2021) |
| Bone pain (HP:0002653) | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. | – | Bone pain | Pain in a bone. | (Kurçaloğlu et al., 2021; Marinangeli et al., 2021) |
| Chest pain (HP:0100749) | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. | Chest discomfort; Thoracic pain | Chest pain | Aching, burning or sharp pain in the chest. | (Kurçaloğlu et al., 2021; Marinangeli et al., 2021) |
| Limb pain (HP:0009763) | Chronic pain in the limbs with no clear focal etiology. | Pain in extremities | Limb pain | Pain in a leg or arm. | (Kurçaloğlu et al., 2021; Marinangeli et al., 2021) |
| Myalgia (HP:0003326) | Pain in muscle. | Myalgias; Muscle ache; Muscle pain | Muscle pain | Muscle pain. | (Kurçaloğlu et al., 2021; Marinangeli et al., 2021) |
| Pain (HP:0012531) | An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. | – | Pain | Physical discomfort. | (Kurçaloğlu et al., 2021; Marinangeli et al., 2021) |
| Pedal edema (HP:0010741) | An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. | Oedema of the lower limbs; Fluid accumulation in lower limbs; Pedal oedema; Dependent edema; Dependent oedema; Leg edema; Peripheral oedema of lower extremity; Leg oedema; Lower leg swelling; Peripheral edema of lower extremity; Edema of the lower limbs | Edema of lower limbs | Build-up of fluid in the lower limbs, resulting in swollen feet and lower legs. | (Proal & VanElzakker, 2021) |
General-Symptom
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Arthritis (HP:0001369) | Inflammation of a joint. | Joint inflammation | Joint inflammation | Inflammation of a joint. | (Bukulmez, 2021) |
| Asthenia (HP:0025406) | A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. | Weakness; Lack of energy and strength | Weakness | Generalized weakness and lack of strength, with a sense of exhaustion which occurs before any effort. | (Groff et al., 2021) |
| Chills (HP:0025143) | A sudden sensation of feeling cold. | – | Chills | A sudden sensation of feeling cold. | (Groff et al., 2021) |
| Constitutional symptom (HP:0025142) | 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. | – | Constitutional symptom | Reflects common usage, but not restricted the term or its descendants to the narrow meaning of a symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. | (Groff et al., 2021) |
| Difficulty walking (HP:0002355) | Reduced ability to walk (ambulate). | Difficulty in walking; Walking disability | Difficulty walking | Difficulty walking. | (Groff et al., 2021) |
| Exercise intolerance (HP:0003546) | A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. | Poor exercise tolerance; Low exercise endurance; Inability to exercise; Decreased ability to exercise | Exercise intolerance | Inability or decreased ability to perform physical exercise at the normally expected level or duration. | (Groff et al., 2021) |
| Fatigue (HP:0012378) | A subjective feeling of tiredness characterized by a lack of energy and motivation. | Tired; Tiredness | Fatigue | Feeling tired, having a lack of energy and no desire do so anything. | (Wong & Weitzer, 2021) |
| Impaired ability to dress oneself (HP:0031060) | This applies to an individual who needs help with dressing or needs to be completely dressed. | – | Impaired ability to dress oneself | Affected person cannot dress without help | (Shelkey & Wallace, 1999) |
| Impairment of activities of daily living (HP:0031058) | Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. | – | Impairment of activities of daily living | Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. | (Shelkey & Wallace, 1999) |
| Night sweats (HP:0030166) | Occurrence of excessive sweating during sleep. | Nocturnal hyperhidrosis | Night sweats | Excessive sweating during sleep. | (Mold, Holtzclaw, & McCarthy, 2012) |
| Postexertional malaise (HP:0030973) | A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise. | Postexertional fatigue; Exercise-induced fatigue; Exercise-induced malaise | Postexertional malaise | A feeling of tiredness and fatigue that occurs following physical activity or exercise. | (Groff et al., 2021) |
| Shivering (HP:0025144) | Involuntary contraction or twitching of the muscles. | Shuddering | Shivering | Shaking slightly and uncontrollably, usually as a result of being cold. | (Groff et al., 2021) |
| Stiff neck (HP:0025258) | A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. | Neck stiffness | Stiff neck | A sensation of tightness or stiffness in the neck when attempting to move it. | (Groff et al., 2021) |
| Weight loss (HP:0001824) | Reduction of total body weight. | Loss of weight | Weight loss | Reduction of body weight. | (Groff et al., 2021) |
| Xerostomia (HP:0000217) | Dryness of the mouth due to salivary gland dysfunction. | Dry mouth; Decreased salivary flow; Reduced salivation; Dry mouth syndrome | Dry mouth | Dry mouth. | (Groff et al., 2021) |
Cardiovascular Finding
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormal heart morphology (HP:0001627) | Any structural anomaly of the heart. | Abnormality of the heart; Congenital heart defects; Congenital heart defect; Cardiac anomalies; Abnormally shaped heart; Heart defect; Abnormality of cardiac morphology; Cardiac anomaly; Cardiac abnormality | Heart defects | Defects in the structure of the heart. | (Proal & VanElzakker, 2021) |
| Abnormal heart rate variability (HP:0031860) | Any abnormality in the variability of the time interval between successive heartbeats. | – | Irregular variability between heartbeats | Fluctuations in the time intervals between heartbeats of patient. | (M. Malik et al., 1996) |
| Abnormal left ventricular function (HP:0005162) | Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. | Left-sided heart failure; Left ventricular dysfunction; Left ventricular failure; Left ventricular impairment; Impaired left ventricular function | Left ventricular failure | Left ventricle of the heart is unable to carry out its function. | (Armstrong, 2000) |
| Abnormal pericardium morphology (HP:0001697) | 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. | Abnormality of the pericardium | Abnormality of the pericardium | An anomaly in the structure of the pericardium. | (Proal & VanElzakker, 2021) |
| Bradycardia (HP:0001662) | A slower than normal heart rate (in adults, slower than 60 beats per minute). | Brachycardia; Slow heartbeats | Bradycardia | Slow heart rate. | (Chilazi, Duffy, Thakkar, & Michos, 2021) |
| Hypertension (HP:0000822) | The presence of chronic increased pressure in the systemic arterial system. | Arterial hypertension; Systemic hypertension; High blood pressure | High blood pressure | High blood pressure. | (Li et al., 2021) |
| Hypotension (HP:0002615) | Low Blood Pressure, vascular hypotension. | Arterial hypotension; Low blood pressure | Low blood pressure | Low blood pressure. | (Li et al., 2021) |
| Increased circulating troponin T concentration (HP:0410174) | An increased concentration of troponin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. | Increased troponin T level in blood | High troponin T level | An increased level of troponin T in the blood. Elevated troponin T levels are a marker of damage to the heart muscle. | (S. Sharma, Jackson, & Makan, 2004) |
| Increased circulating troponin I concentration (HP:0410173) | An increased concentration of troponin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. | Increased troponin I level in blood | High troponin I level | An increased level of troponin I in the blood. Elevated troponin I levels are a marker of damage to the heart muscle. | (S. Sharma et al., 2004) |
| Myocarditis (HP:0012819) | Inflammation of the myocardium. | Inflammation of heart muscle | Myocarditis | Inflammation of the heart muscle. | (Kindermann et al., 2012; Sagar, Liu, & Cooper, 2012) |
| Pericardial effusion (HP:0001698) | Accumulation of fluid within the pericardium. | Fluid around heart; Pericardial effusions | Pericardial effusion | Buildup of extra fluid underneath the membrane that covers the heart (pericardium). | (Proal & VanElzakker, 2021) |
| Reduced ejection fraction (HP:0012664) | A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. | – | Reduced ejection fraction | A reduction in the amount of blood the left ventricle of the heart pumps out with each contraction. | (Armstrong, 2000) |
| Tachycardia (HP:0001649) | A rapid heartrate that exceeds the range of the normal resting heartrate for age. | Elevated heart rate; Rapid heart beat; Increased heart rate; Fast heart rate; Racing heart; Heart racing | Tachycardia | A rapid heart rate | (Chilazi et al., 2021) |
| Venous thrombosis (HP:0004936) | Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. | Blood clot in vein | Venous thrombosis | Blood clot in vein. | (Proal & VanElzakker, 2021) |
Cardiovascular Symptom
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Angina pectoris (HP:0001681) | Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. | – | Angina | Chest pain or discomfort caused by lack of adequate blood supply to the heart | (Chilazi et al., 2021) |
| Arrhythmia (HP:0011675) | Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. | Irregular heartbeat; Abnormal heart rate; Arrhythmias; Irregular heartbeat; Cardiac arrhythmia; Heart rhythm disorders; Cardiac rhythm disturbances; Cardiac arrhythmias | Irregular heart rate | Irregular rhythm of beating of the heart. | (Deal, Mavroudis, Jacobs, Gevitz, & Backer, 2008) |
| Palpitations (HP:0001962) | A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. | Missed heart beat; Skipped heart beat; Heart palpitations | Palpitations | The feeling of a racing, pounding, and/or irregular heartbeat. | (Chilazi et al., 2021) |
| Stroke (HP:0001297) | Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. | Cerebrovascular accidents; Cerebrovascular accident; Cerebral vascular events | Stroke | The blockage of a blood vessel by a clot or burst which prevents oxygen from reaching the brain. | (Frisullo et al., 2021) |
| Syncope (HP:0001279) | Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. | Fainting spell | Fainting | Fainting. | (de Freitas et al., 2021) |
Gastrointestinal Finding
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormal pancreas morphology (HP:0012090) | Any structural anomaly of the pancreas. | Abnormally shaped pancreas, Abnormality of pancreas morphology | Pancreatic defects | Defects in the structure of the pancreas. | (Cao et al., 2021) |
| Gastroesophageal reflux (HP:0002020) | A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. | Gastro-oesophageal reflux; Gastroesophageal reflux disease; Acid reflux disease; GERD; Acid reflux; Heartburn | Gastroesophageal reflux disease | Backwash of the acidic fluid of the stomach into the esophagus (the tube that connects the stomach and the mouth). | (Kariyawasam, Jayarajah, Riza, Abeysuriya, & Seneviratne, 2021) |
| Gastroparesis (HP:0002578) | Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. | Delayed gastric emptying | Weakened stomach muscle | Decreased strength of the muscle layer of stomach. | (Kariyawasam et al., 2021) |
| Gastric ulcer (HP:0002592) | An ulcer, that is, an erosion of an area of the gastric mucous membrane. | Stomach ulcer | Stomach ulcer | A sore on the lining of the stomach | (Kariyawasam et al., 2021) |
| Hepatic steatosis (HP:0001397) | Steatosis is a term used to denote lipid accumulation within hepatocytes. | Steatosis; Liver steatosis; Fatty infiltration of liver; Fatty liver | Fatty liver | Accumulation of fat in the liver. | (Mostafa, Abdelkader, Evans, Hagen, & Hartley, 2020) |
| Hepatomegaly (HP:0002240) | Abnormally increased size of the liver. | Enlarged liver | Enlarged liver | Enlarged liver. | (Su, Chang, Chen, & Lai, 2021) |
| Hepatitis (HP:0012115) | Inflammation of the liver. | Liver inflammation | Liver inflammation | Liver inflammation | (Bukulmez, 2021) |
| Malnutrition (HP:0004395) | A deficiency in the intake of energy and nutrients. | – | Malnutrition | A deficiency in the intake of energy and nutrients. | (van der Meij, Ligthart-Melis, & de van der Schueren, 2021) |
| Splenomegaly (HP:0001744) | Abnormal increased size of the spleen. | Increased spleen size | Enlarged spleen | Enlarged spleen. | (Kariyawasam et al., 2021) |
Gastrointestinal Symptom
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abdominal pain (HP:0002027) | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. | Gastro pain; Pain in stomach; Stomach pain; Abdominal discomfort; Upset stomach; Gastrointestinal pain | Abdominal pain | Pain in the belly. | (Kariyawasam et al., 2021) |
| Abdominal symptom (HP:0011458) | A subjective manifestation of disease localized to the abdomen. | – | Gut symptom | A general term for symptoms that are related to the abdomen (gut, belly). | (Kariyawasam et al., 2021) |
| Anorexia (HP:0002039) | A lack or loss of appetite for food (as a medical condition). | – | Anorexia | A lack or loss of appetite for food. | (Dumitrașcu et al., 2021) |
| Bowel incontinence (HP:0002607) | Involuntary fecal soiling in adults and children who have usually already been toilet trained. | Anal incontinence; Loss of bowel control; Faecal incontinence; Fecal incontinence | Bowel incontinence | Loss of control over bowel movements with involuntary leakage of stool (feces) from the rectum. | (Abrams et al., 2003) |
| Constipation (HP:0002019) | Infrequent or difficult evacuation of feces. | Dyschezia; Costiveness | Constipation | Infrequent and difficult bowel movements. | (Kariyawasam et al., 2021) |
| Diarrhea (HP:0002014) | Abnormally increased frequency of loose or watery bowel movements. | Watery stool; Diarrhoea | Diarrhea | Increased frequency of loose or watery bowel movements. | (Kariyawasam et al., 2021) |
| Nausea (HP:0002018) | A sensation of unease in the stomach together with an urge to vomit. | – | Nausea | An urge to vomit. | (Singh, Yoon, & Kuo, 2016) |
| Vomiting (HP:0002013) | Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. | Throwing up; Emesis | Vomiting | Throwing up. | (Cao et al., 2021; Singh et al., 2016) |
| Poor appetite (HP:0004396) | A reduced desire to eat. | No appetite; Decreased appetite; Loss of appetite | Poor appetite | A reduced desire to eat. | (Cao et al., 2021) |
Pulmonary Finding
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormality on pulmonary function testing (HP:0030878) | Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. | Abnormal pulmonary function test; Abnormal spirometry test | Chest/lung disease | Disorders affecting the lungs. | (Family, Johnson, & Theurer, 2014; Ranu, Wilde, & Madden, 2011) |
| Airway obstruction (HP:0006536) | Obstruction of conducting airways of the lung. | Obstructive lung disease; Pulmonary obstruction | Airway obstruction | Reduction of the ability of the airways of the lung to transport air. | (Adeloye et al., 2021) |
| Decreased DLCO (HP:0045051) | Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. | Decreased diffusing capacity | Decreased diffusing capacity in the lungs | Reduced ability of the lungs to transfer gas from inhaled air to the blood. | (Modi & Cascella, 2021) |
| Ground-glass opacification (HP:0025179) | On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. | Ground-glass opacification on pulmonary HRCT | Ground-glass opacification | Areas of haziness (moderately increased whiteness) in the lung as seen on chest X-ray, CT, or MRI. | (Hansell et al., 2008; Oikonomou & Prassopoulos, 2013) |
| Hypoxemia (HP:0012418) | An abnormally low level of blood oxygen. | Low blood oxygen level; Hypoxia | Low blood oxygen | An abnormally low level of oxygen in the blood. | (Andrianopoulos et al., 2014) |
| Oxygen desaturation on exertion (HP:0030874) | Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. | O2 desaturation on exertion | Oxygen desaturation on exertion | A drop in oxygen level that occurs in response to physical activity. | (Andrianopoulos et al., 2014) |
| Reduced FEV1/FVC ratio (HP:0030877) | Abnormally low FEV1/FVC (FEV1 – forced expiratory volume in 1 second; FVC forced vital capacity). | Obstructive deficit on pulmonary function test; Obstructive deficit on pulmonary function testing | Reduced FEV1/FVC ratio | A reduced ratio of the amount of air a patient can breathe out in one second as compared to the total amount of air the patient can breathe out. | (Family et al., 2014; Ranu et al., 2011) |
| Reduced forced expiratory volume in one second (HP:0032342) | An abnormal reduction in the amount of air a person can forcefully expel in one second. | Reduced FEV1 | A reduction in the amount of air a patient can forcefully breathe out in one second. | (Family et al., 2014; Ranu et al., 2011) | |
| Reduced forced vital capacity (HP:0032341) | An abnormal reduction in the amount of air a person can expel following maximal inspiration. | Reduced FVC; Decreased forced vital capacity | Reduced FVC | A reduction in the amount of air a patient can forcefully breathe out. | (Family et al., 2014; Ranu et al., 2011) |
| Reduced vital capacity (HP:0002792) | An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. | Decreased vital capacity | Reduced VC | A reduction in the amount of air a patient can breathe out. | (Family et al., 2014; Ranu et al., 2011) |
| Restrictive ventilatory defect (HP:0002091) | A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. | Restrictive respiratory disease; Restrictive respiratory insufficiency; Spirometric restriction; Restrictive lung disease; Restrictive deficit on pulmonary function tests; Restrictive deficit on pulmonary function testing; Stiff lung or chest wall causing decreased lung volume; Restrictive respiratory syndrome | Restrictive lung disease | A restrictive lung disease, meaning that the lung cannot expand as much as a normal lung does, which leads to problems with air flow. | (Lutfi, 2017) |
| Pleuritis (HP:0002102) | Inflammation of the pleura. | Pleurisy; Inflammation of tissues lining lungs and chest | Pleuritis | Inflammation of the lining of the lungs and chest cavity (pleura). | (Bukulmez, 2021) |
| Pulmonary embolism (HP:0002204) | 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. | Blood clot in artery of lung | Lung embolism | Blood clot in artery of lung. | (Trunz et al., 2021) |
Pulmonary Imaging
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormal pulmonary thoracic imaging finding (HP:0031983) | 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 chest radiograph finding (lung) | Abnormal lung radiology result | Abnormal results of chest X-ray, computed tomography (CT), or magnetic resonance imaging (MRI) of the lung. | (Adeloye et al., 2021; Hansell et al., 2008) |
| Atelectasis (HP:0100750) | Collapse of part of a lung associated with absence of inflation (air) of that part. | Pulmonary atelectasis; Partial or complete collapse of part or entire lung | Atelectasis | Collapse of part of a lung. | (Gattinoni et al., 2021) |
| Bronchiectasis (HP:0002110) | Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. | Permanent enlargement of the airways of the lungs | Bronchiectasis | Permanent enlargement of the airways of the lungs. | (Suliman et al., 2021) |
| Centrilobular ground-glass opacification on pulmonary HRCT (HP:0025180) | A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. | Centrilobular groundglass opacity; Centrilobular groundglass opacification | Centrilobular ground-glass opacification | Areas of haziness (moderately increased whiteness) in the centers of lung lobules (parts of the lung). This feature can be observed by computed tomography of the lung. | (Oikonomou & Prassopoulos, 2013) |
| Interlobular septal thickening (HP:0030879) | Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. | Short lines (pulmonary CT finding); Peripheral lines (pulmonary CT finding); Septal thickening (pulmonary CT finding); Septal lines (pulmonary CT finding); Interlobular lines (pulmonary CT finding); Interlobular septal thickening on pulmonary HRCT | Interlobular septal thickening | an abnormal finding on lung computed tomography (CT) whereby the normally invisible separations between subunits of the lung (lobules) appear as thickened lines. | (Oikonomou & Prassopoulos, 2013) |
| Parenchymal consolidation (HP:0032177) | Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). | – | Consolidation | An area of complete whiteness in a chest X-ray or computed tomography (CT scan) that is typically observed when the air sacs in the lungs are filled with fluid, pus, or other material rather than air. | (Hansell et al., 2008) |
| Pleural thickening (HP:0031944) | An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. | Pleural incrassation | Pleural thickening | An increase in the thickness of the lining of the lungs (pleura), which can occur because of scarring. | (Downer, Ali, & Au-Yong, 2013) |
| Pulmonary bulla (HP:0032446) | Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. | Pulmonary bullae | Lung bulla | A relatively large cavity within the lung that can be seen as a dark bubble on chest X-ray or computed tomography. | (Cantin, Bankier, & Eisenberg, 2010; Goldberg & Carey, 2013; Hansell et al., 2008) |
| Pulmonary fibrosis (HP:0002206) | Replacement of normal lung tissues by fibroblasts and collagen. | – | Lung scarring | Replacement of normal lung tissue by scar tissue. | (Adeloye et al., 2021) |
| Pulmonary interstitial high-resolution computed tomography abnormality (HP:0025389) | High-resolution computed tomography (HRCT) can distinguish findings that characterize interstitial lung diseases in a way not possible with other modalities. | Pulmonary interstitial HRCT abnormality | Interstitial lung disease | An umbrella term used for a large group of diseases that cause scarring (fibrosis) of the lungs. The scarring causes stiffness in the lungs which makes it difficult to breathe and get oxygen to the bloodstream. | (Oikonomou & Prassopoulos, 2013) |
| Pulmonary opacity (HP:0031457) | Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears opaquer than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. | – | Lung opacity | The result of a decrease in the ratio of gas to soft tissue in the lung. Appear as hazy grey areas in CT scans/X-rays. | (Hansell et al., 2008) |
| Reticular pattern on pulmonary HRCT (HP:0025390) | On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. | – | Reticular pattern | An abnormal finding on lung computed tomography (CT) that resembles a network of shadows on the lung. | (Oikonomou & Prassopoulos, 2013) |
pulmonary-symptom
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormal breath sound (HP:0030829) | An anomalous (adventitious) sound produced by the breathing process. | Abnormal lung auscultation finding | Abnormal breath sound | Unusual sound produced during breathing. | (Sarkar, Madabhavi, Niranjan, & Dogra, 2015) |
| Abnormal sputum (HP:0032016) | 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. | Abnormal sputum morphology | Abnormal sputum | Unusual appearance of material coughed up by the respiratory system. | (Al-Aly et al., 2021) |
| Cough (HP:0012735) | A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. | Coughing | Cough | Cough. | (Chang & Glomb, 2006; Morice et al., 2007) |
| Dyspnea (HP:0002094) | Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. | Shortness of breath; Abnormal breathing; Panting; Difficult to breathe; Dyspnoea; Difficulty breathing; Breathing difficulty; Trouble breathing | Shortness of breath | An uncomfortable feeling of shortness of breath that has been described as air hunger. | (Bausewein, Farquhar, Booth, Gysels, & Higginson, 2007) |
| Exertional dyspnea (HP:0002875) | Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. | Exertional dyspnoea; Exertional breathlessness; Shortness of breathing upon physical activity | Shortness of breathing upon physical activity | An uncomfortable feeling of shortness of breath that occurs following physical activity. | (Sandeep Sharma, Hashmi, & Badireddy, 2022) |
| Hemoptysis (HP:0002105) | Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. | Coughing up blood; Haemoptysis; Coughing up blood or blood-stained mucus | Hemoptysis | Coughing up blood. | (Chang & Glomb, 2006; Morice et al., 2007) |
| Nonproductive cough (HP:0031246) | A cough that does not produce phlegm or mucus. | Dry cough; Dry coughing | Dry cough | A cough that does not produce phlegm or mucus. | (Chang & Glomb, 2006; Morice et al., 2007) |
| Productive cough (HP:0031245) | A cough that produces phlegm or mucus. | Cough with mucus production; Wet cough | Wet cough | A cough that produces phlegm or mucus. | (Chang & Glomb, 2006; Morice et al., 2007) |
| Rhinorrhea (HP:0031417) | Increased discharge of mucus from the nose. | Runny Nose; Nasal Discharge | Runny nose | Runny nose. | (El Anwar et al., 2021) |
| Tachypnea (HP:0002789) | Very rapid breathing. | Polypnea; Increased respiratory rate or depth of breathing | Rapid breathing | Very rapid breathing. | (Sarkar et al., 2015) |
| Wheezing (HP:0030828) | A high-pitched whistling sound associated with labored breathing. | – | Wheezing | A high-pitched whistling sound associated with labored breathing. | (Sarkar et al., 2015) |
Neuropsychiatric Behavioral
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Anxiety (HP:0000739) | Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. | Anxiety disease; Anxiousness; Excessive, persistent worry and fear | Anxiety | Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. | (Abdullah, Parveen, Shahid Khan, & Abdullah, 2021; Schmeck et al., 2013) |
| Apathy (HP:0000741) | – | Lack of feeling, emotion, interest | Apathy | A lack of any feelings, emotions, or interest. | (McBride, Arden, Chater, & Chilcot, 2021; L. Wang et al., 2021) |
| Attention deficit hyperactivity disorder (HP:0007018) | Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. | Attention deficit disorder; Childhood attention deficit/hyperactivity disorder; Attention deficit; Attention deficits; Attention deficit-hyperactivity disorder | ADHD | A state of distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. | (Merzon et al., 2022) |
| Auditory hallucinations (HP:0008765) | The false perception of sound. | Hallucinations of sound; Hearing sounds | Auditory hallucinations | Imagining/hallucinating sounds that are not there. | (El Haj, Larøi, & Gallouj, 2021) |
| Behavioral abnormalities (HP:0000708) | An abnormality of mental functioning including various affective, behavioral, cognitive and perceptual abnormalities. | Behavioral abnormality; Behavioral symptoms; Behavioral abnormality; Behavioral disturbances; Behavioral/Psychiatric abnormality; Psychiatric disorders; Behavioral problems; Behavioral disturbances; Behavioral symptoms; Behavioral changes; Behavioral disorders; Behavioral problems; Behavioral disorders; Psychiatric disturbances; Behavioral changes; Behavioral/psychiatric abnormalities | Behavioral abnormalities | A defect in behavioral functioning. | (McBride et al., 2021) |
| Delusions (HP:0000746) | A false belief that is held despite evidence to the contrary. | – | Delusions | Beliefs that are wrong and is held despite evidence to the contrary. | (Abdullah et al., 2021) |
| Hallucinations (HP:0000738) | Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. | Hallucination; Sensory hallucination | Hallucinations | Imagining/hallucinating things that are not there. | (El Haj et al., 2021) |
| Impulsivity (HP:0100710) | Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. | Impulsive | Impulsivity | A tendency to act on a momentary basis without a plan or consideration of outcomes. | (Schmeck et al., 2013) |
| Irritability (HP:0000737) | A proneness to anger, i.e., a condition of being easily bothered or annoyed. | Irritable | Irritability | Being easily bothered or annoyed. | (Vidal-Ribas, Brotman, Valdivieso, Leibenluft, & Stringaris, 2016) |
| Obsessive-compulsive disorder (HP:0000722) | Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). | Obsessive compulsive disorder; Obsessive compulsive behavior; Obsessive compulsive behavior; Obsessive-compulsive disorder; Obsessive-compulsive behavior; Obsessive-compulsive behavior; OCD | OCD | Recurrent obsessions or compulsions that are severe enough to be time consuming. | (Abdullah et al., 2021; Moreira-de-Oliveira et al., 2022) |
| Panic attack (HP:0025269) | A sudden episode of intense fear in a situation in which there is no danger or apparent cause. | – | Panic attack | A sudden episode of intense fear in a situation in which there is no danger or apparent cause. | (Cackovic, Nazir, & Marwaha, 2022) |
| Paranoia (HP:0011999) | A persecutory delusion of supposed hostility of others. | Paranoia | Paranoia | The feeling of being threatened in some way, such as people watching you or acting against you, even though there’s no proof that it’s true. | (McBride et al., 2021; L. Wang et al., 2021) |
| Personality disorders (HP:0012075) | An abnormality of mental functioning affecting the personality and behavioral tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. | – | Personality disorders | A defect in mental functioning affecting a patient’s personality. A personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work and school. It is usually manifest since childhood or adolescence and continues throughout adulthood. | (Schmeck et al., 2013) |
| Phonophobia (HP:0002183) | An abnormally heightened sensitivity to loud sounds. | Fear of loud sounds | Phonophobia | An abnormally heightened sensitivity to loud sounds. | (McBride et al., 2021; L. Wang et al., 2021) |
| Polydipsia (HP:0001959) | Excessive thirst manifested by excessive fluid intake. | Extreme thirst | Polydipsia | A feeling of extreme thirstiness and excessive fluid intake. | (McBride et al., 2021; L. Wang et al., 2021) |
| Short attention span (HP:0000736) | Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. | Poor attention span; Problem paying attention; Easily distracted | Short attention span | Reduced attention span | (McBride et al., 2021; L. Wang et al., 2021) |
| Visual hallucinations (HP:0002367) | Visual perceptions that are not elicited by a corresponding stimulus from the outside world. | – | Visual hallucinations | Imagining/hallucinating seeing things that are not there. | (El Haj et al., 2021) |
Neuropsychiatric Cognitive Dysfunction
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormality of higher mental function (HP:0011446) | Cognitive, psychiatric or memory anomaly. | – | Mental illnesses | Mental illness, also called mental health disorders, refers to a wide range of mental health conditions — disorders that affect mood, thinking and behavior. | (Al-Aly, Xie, & Bowe, 2021) |
| Agnosia (HP:0010524) | Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. | – | Agnosia | Failure to recognize or identify objects despite intact sensory functioning. | (Hosseini, Nadjafi, & Ashtary, 2021) |
| Bradykinesia (HP:0002067) | Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). | Slowness of movements; Slow movements | Bradykinesia | Abnormally slow movements | (Hosseini et al., 2021) |
| Bradyphrenia (HP:0031843) | Abnormal slowness of thought processes. | Slowed thinking; Slowness of thought; Mental slowness; Slowed thoughts | Mental slowness | Slowness of thought. | (Hosseini et al., 2021) |
| Cognitive impairment (HP:0100543) | Abnormal cognition with deficits in thinking, reasoning, or remembering. | Cognitive abnormality; Cognitive defects; Intellectual impairment; Cognitive deficits; Abnormality of cognition; An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions. | Difficulty thinking | Reduced ability to think clearly or process information with troubles remembering, learning new things, concentrating, or making decisions. | (Al-Aly et al., 2021) |
| Confusion (HP:0001289) | Lack of clarity and coherence of thought, perception, understanding, or action. | Easily confused; Disorientation; Mental disorientation | Confusion | Inability to think clearly and quickly. | (Hosseini et al., 2021) |
| Diminished ability to concentrate (HP:0031987) | Being unable to focus one’s attention or mental effort on a particular object or activity. | Lack of concentration; Concentration problems; Poor concentration | Poor concentration | Being unable to focus one’s attention or mental effort on a particular object or activity. | (Hosseini et al., 2021) |
| Encephalopathy (HP:0001298) | Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. | – | Brain disease | A general term that means brain disease, damage, or malfunction. | (Hosseini et al., 2021) |
Neuropsychiatric Emotion Mood
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormal emotion/affect behavior (HP:0100851) | An abnormality of emotional behavior. | Abnormal emotion/affect behavior | Abnormal emotion/affect behavior | An abnormality of emotional behavior. | (Schmeck, Schlüter-Müller, Foelsch, & Doering, 2013) |
| Abnormal fear/anxiety-related behavior (HP:0100852) | An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. | Abnormal fear/anxiety-related behavior | Abnormal fear/anxiety-related behavior | An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. | (Schmeck et al., 2013) |
| Aggressive behavior (HP:0000718) | Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. | Aggressiveness; physical aggression; Aggressive behavior; Aggression | Aggressive behavior | Verbal or physical aggression. | (Schmeck et al., 2013) |
| Depression (HP:0000716) | Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. | Depressive disorder; Depressivity | Depression | Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. | (Schmeck et al., 2013) |
| Emotional lability (HP:0000712) | Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. | Mood lability; Mood alterations; Mood changes; Emotional instability | Mood changes | Rapid, intense changes in mood. | (Schmeck et al., 2013) |
| Euphoria (HP:0031844) | A sense of intense joy or happiness that is beyond what would be expected under the given circumstances. | – | Euphoria | A sense of intense joy or happiness that is beyond what would be expected under the given circumstances. | (Joksovic & Chiles, 2014) |
| Mania (HP:0100754) | A state of abnormally elevated or irritable mood, arousal, and or energy levels. | Manic | Mania | A condition of intense moods, extreme excitement and euphoria. | (Berrios, 2004) |
| Suicidal ideation (HP:0031589) | Frequent thinking about or preoccupation with killing oneself. | Suicidality | Suicidal ideation | Thinking about or planning suicide. | (Sher, 2021) |
Neuropsychiatric Headache
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Headache (HP:0002315) | Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. | Headaches | Headache | A feeling of pain in the head. | (Lipton, Bigal, Steiner, Silberstein, & Olesen, 2004) |
| Migraine (HP:0002076) | Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. | Migraine headache; Intermittent migraine headaches; Migraine headaches | Migraine | Migraine headache. | (Lipton et al., 2004) |
Neuropsychiatric Memory
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Memory impairment (HP:0002354) | An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. | Memory loss; Memory problems; Poor memory; Forgetfulness | Memory loss | Reduced ability to remember things. | (Al-Aly et al., 2021) |
Neuropsychiatric Sleep
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Insomnia (HP:0100785) | Persistent difficulty initiating or maintaining sleep. | Fragmented sleep; Difficulty staying or falling asleep | Insomnia | Difficulty falling and/or staying asleep. | (Buysse, 2013; Inönü Köseoğlu, 2021) |
| Maintenance insomnia (HP:0031355) | Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. | Waking up several times during the night | Maintenance insomnia | Difficulty sleeping through the night. | (Buysse, 2013; Inönü Köseoğlu, 2021) |
| Restless legs (HP:0012452) | A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). | Willis-Ekbom disease; Restless legs syndrome; Wittmaack-Ekbom syndrome | Restless legs | A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). | (Bhat & Chokroverty, 2021) |
| Sleep apnea (HP:0010535) | An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. | Pauses in breathing while sleeping; Sleep apnoea | Sleep apnea | Pauses in breathing while sleeping. | (Kravitz, Yakubova, Yu, & Park, 2021) |
| Sleep disturbance (HP:0002360) | An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. | Sleep disturbances; Sleep dysfunction; Difficulty sleeping; Trouble sleeping | Sleep disturbance | A general term for sleep problem such as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. | (Bhat & Chokroverty, 2021) |
| Sleep onset insomnia (HP:0031354) | Difficulty initiating sleep, that is, increased sleep onset latency. | Difficulty falling asleep | Sleep onset insomnia | Difficulty falling asleep. | (Buysse, 2013; Inönü Köseoğlu, 2021) |
Neuropsychiatric-Smell & Taste
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormality of taste sensation (HP:0000223) | An anomaly in the ability to perceive flavor. Taste disorders fall under three broad descriptors: hypogeusia is a diminished sense of taste, ageusia is the complete loss of taste, and dysgeusia is an alteration or distortion in the perception of taste. | Abnormality of taste sensation | Taste disorders | Complete/partial loss of sense of taste. | (Hannum et al., 2021; Mastrangelo, Bonato, & Cinque, 2021) |
| Anosmia (HP:0000458) | An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. | Loss of smell; Lost smell | Loss of smell | Complete loss of the sense of smell. | (Glezer, Bruni-Cardoso, Schechtman, & Malnic, 2020) |
| Hypogeusia (HP:0000224) | A decreased ability to perceive flavor. | Decreased taste sensation; Decreased taste | Decreased sense of taste. | Decreased ability to taste. | (Hannum et al., 2021; Mastrangelo et al., 2021) |
| Hyposmia (HP:0004409) | A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). | Decreased smell sensation; Sense of smell impaired | Decreased sense of smell. | Decreased ability to smell. | (Glezer et al., 2020) |
| Abnormality of the sense of smell (HP:0004408) | An anomaly in the ability to perceive and distinguish scents (odors). | Smell defect; Abnormal sense of smell; Abnormality of the sense of smell; Abnormality of olfaction | Smell defect | Smell defect | (Glezer et al., 2020) |
Neuropsychiatric-Speech-Language
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Anomic aphasia (HP:0030784) | An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. | Amnesic aphasia; Amnestic aphasia; Anomia; Nominal aphasia | Word-finding difficulty | Trouble naming objects (inability to find the right word) when speaking and writing. | (Henry, Beeson, & Rapcsak, 2008) |
| Aphasia (HP:0002381) | An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. | Losing words; Loss of words; Difficulty finding words | Aphasia | Loss of ability to understand or express speech. | (Kong, 2021) |
| Expressive aphasia (HP:0002427) | Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. | Broca’s aphasia; Motor aphasia; Loss of expressive speech | Non-fluent aphasia | Difficulty speaking or writing complete sentences with correct grammar. | (Kong, 2021) |
| Neurological speech impairment (HP:0002167) | Disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. | Speech impediment; Speech disorder; Speech impairment | Speech disorder | Weakness or paralysis of speech muscles caused by damage to the nerves or brain. | (Kearney, Searl, Erickson-Direnzo, & Doyle, 2021) |
| Slurred speech (HP:0001350) | Abnormal coordination of muscles involved in speech. | – | Slurred speech | Slurring words/speech. | (Kearney et al., 2021) |
Neuropsychiatric Finding
| HPO Term | Definition | Synonyms | Plain-language label | Plain-language definition | References |
| Abnormal reflex (HP:0031826) | 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 reflex | Abnormality of a reflex such as the knee jerk (a sudden involuntary reflex kick caused by tapping the knee with a reflex hammer). | (Hosseini et al., 2021) |
| Abnormality of movement (HP:0100022) | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. | Unusual movement; Movement disorder | Abnormal movements | Abnormal movements | (Brandão, Grippe, Pereira, Munhoz, & Cardoso, 2021) |
| Ataxia (HP:0001251) | 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). | Cerebellar ataxia | Ataxia | A lack of coordination of voluntary movements that can cause slurred speech, stumbling, falling, and lack of coordination. | (Chan, Murphy, & Sarna, 2021) |
| Babinski sign (HP:0003487) | Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present, it can indicate damage to the corticospinal tract. | Extensor plantar responses; Extensor plantar reflexes; Extensor plantar response; Positive Babinski sign | Babinski sign | An abnormal neurological reflex whereby the big toe turns upward if the sole of the foot is stroked. | (Groff et al., 2021) |
| Dysarthria (HP:0001260) | 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. | Difficulty articulating speech; Dysarthric speech | Dysarthria | A speech disorder characterized by slurred or slow speech that is difficult to understand. | (Kearney et al., 2021) |
| Dysmetria (HP:0001310) | A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. | Lack of coordination of movement; Abnormal finger chase test; Abnormal finger-nose-finger test | Dysmetria | Inability to perform a movement towards an object at a precise distance. | (Chan et al., 2021) |
| Dysphagia (HP:0002015) | Difficulty in swallowing. | Deglutition disorder; Swallowing difficulties; Poor swallowing; Difficulty swallowing; Swallowing difficulty | Dysphagia | Difficulty swallowing | (Aoyagi et al., 2021) |
| Dystonia (HP:0001332) | 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. | Dystonic disease; Dystonic movements | Dystonia | Abnormally increased muscular tension that causes fixed abnormal postures. | (Brandão et al., 2021; Delgado, Pareés, & Kurtis, 2021) |
| Facial paralysis (HP:0007209) | Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). | Facial paresis | Weakness of face muscles | An inability to move the muscles on one or both sides of the face. | (Brandão et al., 2021) |
| Frontal release signs (HP:0000743) | Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. | Frontal release reflexes | Frontal release signs | Signs of neurological damage that include uncontrollable grasping, sucking, pursing of lips. | (Hosseini et al., 2021) |
| Gait disturbance (HP:0001288) | 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. | Abnormal gait; Gait abnormalities; Impaired gait; Gait disturbances; Gait difficulties; Abnormal walk | Gait disturbance | Difficulty walking | (Pirker & Katzenschlager, 2017) |
| Hand muscle weakness (HP:0030237) | Reduced strength of the musculature of the hand. | – | Hand weakness | Reduced strength of the hand muscles. | (Anaya et al., 2021) |
| Hyperesthesia (HP:0100963) | Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. | Hyperaesthesia | Hyperesthesia | Increased sensitivity to touch | (Maldonado & Jesus, 2021) |
| Hyperkinetic movements (HP:0002487) | Motor hyperactivity with excessive movement of muscles of the body as a whole. | Muscle spasms; Hyperkinesia; Hyperkinesis | Hyperkinetic movements | Excessive movement of muscles. | (Brandão et al., 2021; Sanger et al., 2010) |
| Hypotonia (HP:0001252) | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. | Central hypotonia; Peripheral hypotonia; Low or weak muscle tone; Low muscle tone; Muscle hypotonia; Muscular hypotonia | Hypotonia | An abnormally low amount of tension (resistance to being moved) in muscles. | (Lisi & Cohn, 2011) |
| Muscle spasm (HP:0003394) | Sudden and involuntary contractions of one or more muscles. | Muscle cramps | Muscle cramp | Sudden and involuntary contractions of one or more muscles. | (Sanger et al., 2010) |
| Muscle weakness (HP:0001324) | Reduced strength of muscles. | Muscular weakness | Muscle weakness | Reduced strength of muscles. | (Saguil, 2005) |
| Orthostatic hypotension (HP:0001278) | A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. | Decrease in blood pressure upon standing up; Postural hypotension | Orthostatic hypotension | Decrease in blood pressure upon standing up. | (Li et al., 2021) |
| Paresthesia (HP:0003401) | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. | Pins and needles feeling; Tingling; Paresthesias | Tingling | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. | (Shimohata, 2021) |
| Parkinsonism (HP:0001300) | Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. | Parkinsonian disease | Parkinsonism | Manifestations that resemble symptoms of Parkinson disease such as shaking, rigidity, slowness of movement and difficulty with walking and gait. | (Shimohata, 2021) |
| Polyneuropathy (HP:0001271) | A generalized disorder of peripheral nerves. | Peripheral nerve disease | Peripheral nerve disease | Peripheral nerve disease | (Suh et al., 2021) |
| Rigidity (HP:0002063) | 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. | Muscle rigidity | Rigidity | The inability of the muscles to relax normally due to involuntary and sustained contraction. | (Shimohata, 2021) |
| Seizure (HP:0001250) | 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. | Seizures; Epilepsy; Epileptic seizure | Seizure | Convulsion (uncontrollable jerking movements of the arms and legs) or change in behavior often accompanied by altered consciousness. Individuals who have two or more seizures without an identifiable cause are generally considered to have epilepsy. | (Fisher et al., 2005) |
| Skeletal muscle atrophy (HP:0003202) | The presence of skeletal muscular atrophy (which is also known as amyotrophy). | Neurogenic muscle atrophy, especially in the lower limbs; Muscle wasting; Amyotrophy involving the extremities; Muscle hypotrophy; Neurogenic muscle atrophy; Muscle degeneration; Amyotrophy; Muscle atrophy; Neurogenic muscular atrophy; Muscular atrophy; Muscle atrophy, neurogenic | Skeletal muscle atrophy | Wasting (atrophy) of muscles. | (Soares et al., 2022; Suh et al., 2021) |
| Somatic sensory dysfunction (HP:0003474) | 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. | Sensory impairment | General sensory impairment | An impairment of sensation with reduced ability to sense pain, temperature, touch, vibration, and/or joint position. | (Suh et al., 2021) |
| Spasticity (HP:0001257) | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. | Muscular spasticity; Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity | Spasticity | A condition in which muscles remain contract and do not relax normally, which prevents normal, smooth movement. | (Sanger et al., 2010) |
| Tremor (HP:0001337) | An unintentional, oscillating to-and-fro muscle movement about a joint axis. | Tremors | Tremor | Uncontrollable shaking movements of a body part. | (Bhidayasiri, 2005; Sanger et al., 2010) |
| Unilateral facial palsy (HP:0012799) | One-sided weakness of the muscles of facial expression and eye closure. | Unilateral facial muscle weakness; Unilateral facial weakness; Paralysis of one side of the face; Unilateral facial paralysis; Weakness of one side of the face; Facial droop; Unilateral facial muscle paralysis | One-sided facial palsy | One-sided weakness of the muscles of the face. | (Renoud et al., 2021) |
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