Human Phenotype Ontology

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

Gene: CFTR

Cytoband position: 7q31.2

OMIM: 602421

RVIS score: -0.51

RVIS percentage: 21.73

Phenotype name	HPO ID	Alternative HPO ID	Phenotype description
Abnormality of the hypothalamus-pituitary axis	HP:0000864	HP:0000838,HP:0000844	Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
Elevated circulating hepatic transaminase concentration	HP:0002910	HP:0001411,HP:0003143,HP:0003156,HP:0003293,HP:0006567,HP:0006578,HP:0008267,HP:0008342	Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Decreased body mass index	HP:0045082	None	Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.
Autosomal recessive inheritance	HP:0000007	HP:0001416,HP:0001526,HP:0031362	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Venous thrombosis	HP:0004936	None	Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
Abnormal motivation	HP:5200275	None	Behavioral patterns and/or energy/activity levels that are statistically uncommon within a particular culture, maladaptive, and result in personal distress and impairment in the individual's functioning.
Abnormal abdomen morphology	HP:0001438	None	A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Inflammatory abnormality of the skin	HP:0011123	HP:0002727,HP:0007423	The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.
Abnormality of bone mineral density	HP:0004348	None	This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
Non-obstructive azoospermia	HP:0011961	None	Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
Systemic lupus erythematosus	HP:0002725	None	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.
Generalized abnormality of skin	HP:0011354	None	An abnormality of the skin that is not localized to any one particular region.
Opportunistic bacterial infection	HP:0032260	None	An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.
Unusual infection	HP:0032101	None	A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.
Abnormality of the nose	HP:0000366	None	An abnormality of the nose.
Abnormal homeostasis	HP:0012337	None	An anomaly in the processes involved in the maintenance of an internal equilibrium.
Edema	HP:0000969	HP:0000990	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Abnormality of the nervous system	HP:0000707	HP:0001333,HP:0006987	An abnormality of the nervous system.
Abnormal external genitalia	HP:0000811	None	None
Emphysema	HP:0002097	HP:0006534	None
Male infertility	HP:0003251	None	None
All	HP:0000001	None	None
Phenotypic abnormality	HP:0000118	None	A phenotypic abnormality.
Pruritus	HP:0000989	None	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.
Palmoplantar keratoderma	HP:0000982	None	Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Eczematoid dermatitis	HP:0000964	HP:0000976,HP:0001481	Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Hyperhidrosis	HP:0000975	HP:0001011,HP:0001064,HP:0007424	Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Palmoplantar hyperkeratosis	HP:0000972	HP:0007548	Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Hyperkeratosis	HP:0000962	HP:0007523	Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Jaundice	HP:0000952	None	Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Abnormality of the skin	HP:0000951	HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580	An abnormality of the skin.
Osteopenia	HP:0000938	HP:0002768,HP:0002799,HP:0002800	Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Osteoporosis	HP:0000939	HP:0002774	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Abnormal skull morphology	HP:0000929	None	An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.
Abnormality of the skeletal system	HP:0000924	None	An abnormality of the skeletal system.
Crackles	HP:0030830	None	Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.
Wheezing	HP:0030828	None	A high-pitched whistling sound associated with labored breathing.
Abnormal breath sound	HP:0030829	None	An anomalous (adventitious) sound produced by the breathing process.
Pruritis on hand	HP:0030899	None	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.
Abnormal gastrointestinal motility	HP:0030895	None	An anomaly of the muscular contractions that propel food though the gastrointestinal tract.
Reduced FEV1/FVC ratio	HP:0030877	None	Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).
Abnormality on pulmonary function testing	HP:0030878	HP:0032340	Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.
Abnormal male reproductive system physiology	HP:0012874	None	An abnormal functionality of the male genital system.
Absent vas deferens	HP:0012873	None	Aplasia (congenital absence) of the vas deferens.
Abnormal vas deferens morphology	HP:0012872	None	A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.
Clinical modifier	HP:0012823	HP:0000004	This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.
Abnormality of the upper limb	HP:0002817	HP:0003838	An abnormality of the arm.
Increased circulating gonadotropin level	HP:0000837	HP:0030340	Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
Glucose intolerance	HP:0001952	HP:0000833	Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Diabetes mellitus	HP:0000819	HP:0004908,HP:0008217,HP:0008234,HP:0008260	A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Abnormality of the endocrine system	HP:0000818	None	An abnormality of the endocrine system.
Abnormal internal genitalia	HP:0000812	None	An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
Oligozoospermia	HP:0000798	None	Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Abnormal renal morphology	HP:0012210	HP:0000792,HP:0004726,HP:0004735,HP:0008712	Any structural anomaly of the kidney.
Nephrolithiasis	HP:0000787	HP:0000102	The presence of calculi (stones) in the kidneys.
External genital hypoplasia	HP:0003241	HP:0000788,HP:0003245	Underdevelopment of part or all of the external reproductive organs.
Infertility	HP:0000789	None	None
Cough	HP:0012735	None	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Anorectal anomaly	HP:0012732	None	An abnormality of the anus or rectum.
Functional abnormality of the gastrointestinal tract	HP:0012719	None	Abnormal functionality of the gastrointestinal tract.
Abnormal gastrointestinal tract morphology	HP:0012718	None	Abnormal structure of the gastrointestinal tract.
Diminished motivation	HP:0000745	None	A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.
Anxiety	HP:0000739	None	Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Depression	HP:0000716	None	Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Atypical behavior	HP:0000708	HP:0000715,HP:0002368,HP:0002456	Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Abnormal cardiovascular system morphology	HP:0030680	HP:0001632,HP:0002564,HP:0002565	Any structural anomaly of the heart and blood vessels.
Acute coronary syndrome	HP:0033678	None	The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI).
Increased inflammatory response	HP:0012649	None	A abnormal increase in the inflammatory response to injury or infection.
Abnormal inflammatory response	HP:0012647	None	Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
Onset	HP:0003674	HP:0003588,HP:0003590,HP:0003597,HP:0003602,HP:0003603,HP:0003618,HP:0003626,HP:0003628,HP:0003630,HP:0003663,HP:0003664,HP:0003668,HP:0011007	The age group in which disease manifestations appear.
Infantile onset	HP:0003593	HP:0003576,HP:0003579,HP:0003591,HP:0003594,HP:0003599,HP:0003600,HP:0003629,HP:0003631,HP:0003667,HP:0003672,HP:0010573	Onset of signs or symptoms of disease between 28 days to one year of life.
Abnormal nervous system physiology	HP:0012638	None	A functional anomaly of the nervous system.
Abnormal nervous system morphology	HP:0012639	None	A structural anomaly of the nervous system.
Childhood onset	HP:0011463	HP:0003586,HP:0003617	Onset of disease at the age of between 1 and 5 years.
Airway obstruction	HP:0006536	HP:0006512	Obstruction of conducting airways of the lung.
Recurrent pneumonia	HP:0006532	HP:0002095,HP:0002096	An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Chronic lung disease	HP:0006528	None	According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
Recurrent bronchopulmonary infections	HP:0006538	None	An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.
Abnormal heart morphology	HP:0001627	HP:3000001	Any structural anomaly of the heart.
Abnormality of metabolism/homeostasis	HP:0001939	HP:0002146,HP:0004355,HP:0004367	None
Abnormal urinary electrolyte concentration	HP:0012591	None	An abnormality in the concentration of electrolytes in the urine.
Abnormality of the ear	HP:0000598	None	An abnormality of the ear.
Pain	HP:0012531	None	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Abnormal pituitary gland morphology	HP:0012503	None	An anomaly of the pituitary gland.
Abnormal brain morphology	HP:0012443	None	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Abnormal biliary tract morphology	HP:0012440	None	A structural abnormality of the biliary tree.
Nasal polyposis	HP:0100582	HP:0000462	Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.
Abnormal nasal mucosa morphology	HP:0000433	None	None
Hearing impairment	HP:0000365	HP:0000404,HP:0001728,HP:0001729,HP:0001754,HP:0008560,HP:0008563	A decreased magnitude of the sensory perception of sound.
Abnormal circulating gonadotropin concentration	HP:0030338	None	An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
Acute phase response	HP:0033331	None	Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.
Bronchitis	HP:0012387	None	Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.
Abnormal circulating enzyme concentration or activity	HP:0012379	None	Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.
Hearing abnormality	HP:0000364	None	An abnormality of the sensory perception of sound.
Abnormality of the immune system	HP:0002715	HP:0003257,HP:0003346,HP:0010986	An abnormality of the immune system.
Abnormal bone structure	HP:0003330	None	Any anomaly in the composite material or the layered arrangement of the bony skeleton.
Splanchnic vein thrombosis	HP:0030247	None	The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).
Visceromegaly	HP:0003271	None	Abnormal increased size of the viscera of the abdomen.
Abnormal finger phalanx morphology	HP:0005918	HP:0005786,HP:0006259	Abnormalities affecting the phalanx of finger.
Splenomegaly	HP:0001744	HP:0001745,HP:0006269	Abnormal increased size of the spleen.
Abnormal phalangeal joint morphology of the hand	HP:0006261	HP:0004266	None
Abnormal respiratory system morphology	HP:0012252	None	A structural anomaly of the respiratory system.
Abnormal reproductive system morphology	HP:0012243	None	A structural or developmental anomaly of any of the tissues involved in the genital system.
Abnormality of the face	HP:0000271	None	An abnormality of the face.
Elevated sweat chloride	HP:0012236	None	An increased concentration of chloride in the sweat.
Abnormal paranasal sinus morphology	HP:0000245	None	Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.
Sinusitis	HP:0000246	None	Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Abnormality of the head	HP:0000234	None	An abnormality of the head.
Hyperpolarized transepithelial nasal potential difference	HP:6000100	None	Increased (more negative) voltage across the nasal epithelium.
Abnormality of blood and blood-forming tissues	HP:0001871	HP:0003135	An abnormality of the hematopoietic system.
Abnormal circulating hormone concentration	HP:0003117	None	Concentration of a hormone in the blood circulation outside of normal limits.
Abnormality of the cardiovascular system	HP:0001626	HP:0003116	Any abnormality of the cardiovascular system.
Abnormality of urine homeostasis	HP:0003110	HP:0011865,HP:0011866	An abnormality of the composition of urine or the levels of its components.
Abnormality of the musculoskeletal system	HP:0033127	None	An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.
Abnormality of the mouth	HP:0000153	None	An abnormality of the mouth.
Abnormality of head or neck	HP:0000152	None	An abnormality of head and neck.
Decreased fertility	HP:0000144	None	None
Abnormal axial skeleton morphology	HP:0009121	None	An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.
Abnormality of the genitourinary system	HP:0000119	HP:0008658,HP:0008688,HP:0008704,HP:0008713	The presence of any abnormality of the genitourinary system.
Abnormality of body mass index	HP:0045081	None	Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.
Abnormality of the lymphatic system	HP:0100763	HP:0003012	An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.
Clubbing	HP:0001217	HP:0003036,HP:0005874	Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Abnormal finger morphology	HP:0001167	HP:0003035	An anomaly of a finger.
Abnormality of the testis size	HP:0045058	None	An anomaly of the size of the testicle (the male gonad).
Palmar hyperhidrosis	HP:0006089	None	None
Abnormality of exocrine pancreas physiology	HP:0012092	None	A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.
Abnormality of pancreas physiology	HP:0012091	None	An anomaly of the function of the pancreas.
Abnormal pancreas morphology	HP:0012090	None	None
Abnormality of reproductive system physiology	HP:0000080	None	An abnormal functionality of the genital system.
Decreased fertility in males	HP:0012041	None	None
Abnormality of the urinary system	HP:0000079	None	An abnormality of the urinary system.
Abnormality of the genital system	HP:0000078	None	An abnormality of the genital system.
Abnormality of the kidney	HP:0000077	None	An abnormality of the kidney.
Hypoplastic male external genitalia	HP:0000050	HP:0008710,HP:0008721	Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).
Decreased testicular size	HP:0008734	HP:0000043	Reduced volume of the testicle (the male gonad).
Abnormal testis morphology	HP:0000035	None	An anomaly of the testicle (the male gonad).
Abnormal male external genitalia morphology	HP:0000032	None	Any structural abnormality of male external genitalia.
Azoospermia	HP:0000027	None	Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Functional abnormality of male internal genitalia	HP:0000025	None	None
Abnormal male internal genitalia morphology	HP:0000022	None	An abnormality of the male internal genitalia.
Autosomal dominant inheritance	HP:0000006	HP:0001415,HP:0001447,HP:0001448,HP:0001451,HP:0001452,HP:0001455,HP:0001456,HP:0001463	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Mode of inheritance	HP:0000005	HP:0001425,HP:0001453,HP:0001461,HP:0010985	The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
Abnormal circulating hepatic transaminase concentration	HP:0430135	None	Any deviation from the normal concentration in the blood circulation of alanine aminotransferase or aspartate aminotransferase.
Abnormality of the plantar skin of foot	HP:0100872	HP:0010613	An abnormality of the plantar part of foot, that is of the soles of the feet.
Abnormal palm morphology	HP:0100871	None	An abnormality of the palm, that is, of the front of the hand.
Abnormal emotion	HP:0100851	None	Abnormalities in the intensity, frequency, or duration of emotional experiences.
Halitosis	HP:0100812	None	Noticeably unpleasant odors exhaled in breathing.
Abnormal experience of reality	HP:5200423	None	Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.
Abnormal judgment	HP:5200401	None	Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.
Clubbing of fingers	HP:0100759	None	Terminal broadening of the fingers (distal phalanges of the fingers).
Chest pain	HP:0100749	None	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Abnormality of immune system physiology	HP:0010978	None	A functional abnormality of the immune system.
Abnormal cellular immune system morphology	HP:0010987	None	An abnormality of the morphology or counts of the cells that make up the immune system.
Abnormality of the upper urinary tract	HP:0010935	None	An abnormality of the upper urinary tract.
Leukocytosis	HP:0001974	None	An abnormal increase in the number of leukocytes in the blood.
Abnormal thrombosis	HP:0001977	None	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
Premature skin wrinkling	HP:0100678	HP:0200074	The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.
Fever	HP:0001945	None	Body temperature elevated above the normal range.
Dehydration	HP:0001944	None	None
Maladaptive fear-related cognitions	HP:5200230	None	Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli.
Abnormal oral physiology	HP:0031815	None	A functional anomaly of the mouth (which is also known as the oral cavity).
Abnormal circulating protein concentration	HP:0010876	None	An abnormal level of a circulating protein in the blood.
Abnormal leukocyte morphology	HP:0001881	None	An abnormality of leukocytes.
Recurrent lower respiratory tract infections	HP:0002783	HP:0004884,HP:0005955	An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Weight loss	HP:0001824	None	Reduction of total body weight.
Decreased body weight	HP:0004325	HP:0001823,HP:0001826	Abnormally low body weight.
Abnormal ear physiology	HP:0031704	None	Any functional anomaly of the ear.
Clinical course	HP:0031797	None	The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.
Palmar hyperkeratosis	HP:0010765	None	Abnormal thickening of the skin localized to the palm of the hand.
Ectopic calcification	HP:0010766	None	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
Abnormality of body weight	HP:0004323	HP:0010718	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
Gastrointestinal obstruction	HP:0004796	None	None
Gastroesophageal reflux	HP:0002020	HP:0004793	A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Abnormal foot morphology	HP:0001760	HP:0010216,HP:0010611	An abnormality of the skeleton of foot.
Abnormality of the spleen	HP:0001743	None	An abnormality of the spleen.
Abnormality of the pancreas	HP:0001732	None	An abnormality of the pancreas.
Pancreatitis	HP:0001733	None	The presence of inflammation in the pancreas.
Exocrine pancreatic insufficiency	HP:0001738	HP:0002581,HP:0004508,HP:0004509	Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Abnormal cardiac ventricle morphology	HP:0001713	None	An abnormality of a cardiac ventricle.
Abnormal right ventricle morphology	HP:0001707	None	An abnormality of the right ventricle of the heart.
Opportunistic infection	HP:0031690	None	An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.
Immunologic hypersensitivity	HP:0100326	None	Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.
Abnormal enzyme concentration or activity	HP:0034684	None	Concentration or activity of an enzyme is above or below the limits of normal.
Abnormal elasticity of skin	HP:0010647	None	Any abnormal increase or reduction in skin elasticity.
Mechanical ileus	HP:0010676	None	None
Myocardial infarction	HP:0001658	None	Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Cor pulmonale	HP:0001648	None	Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Palmoplantar hyperhidrosis	HP:0007410	HP:0007624	An abnormally increased perspiration on palms and soles.
Prematurely aged appearance	HP:0007495	HP:0001599	None
Abnormality of the integument	HP:0001574	None	An abnormality of the integument, which consists of the skin and the superficial fascia.
Atopic dermatitis	HP:0001047	HP:0007533,HP:0007564	Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.
Plantar hyperkeratosis	HP:0007556	HP:0007382,HP:0007445	Hyperkeratosis affecting the sole of the foot.
Hypohidrosis or hyperhidrosis	HP:0007550	None	None
Hyperpituitarism	HP:0010514	None	Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.
Failure to thrive	HP:0001508	HP:0001535,HP:0008853,HP:0008878,HP:0008916	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Growth abnormality	HP:0001507	HP:0008904	None
Chronic bronchitis	HP:0004469	None	Chronic inflammation of the bronchi.
Meconium ileus	HP:0004401	HP:0002610,HP:0004402	Obstruction of the intestine due to abnormally thick meconium.
Abnormality of the male genitalia	HP:0010461	None	Abnormality of the male genital system.
Aplasia/Hypoplasia of the testes	HP:0010468	None	Absence or underdevelopment of the testes.
Recurrent staphylococcal infections	HP:0007499	None	Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.
Abnormal bronchus morphology	HP:0025426	HP:0002109	Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.
Abnormal spleen morphology	HP:0025408	None	Any anomaly of the structure of the spleen.
Hepatosplenomegaly	HP:0001433	None	Simultaneous enlargement of the liver and spleen.
Excessive skin wrinkling on dorsum of hands and fingers	HP:0007407	None	None
Recurrent pancreatitis	HP:0100027	None	A recurrent form of pancreatitis.
Reduced bone mineral density	HP:0004349	None	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Abnormality of temperature regulation	HP:0004370	None	An abnormality of temperature homeostasis.
Cachexia	HP:0004326	None	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Thickened skin	HP:0001072	HP:0007393	Laminar thickening of skin.
Excessive wrinkled skin	HP:0007392	None	None
Mendelian inheritance	HP:0034345	None	A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel.
Hepatomegaly	HP:0002240	HP:0001393,HP:0001398	Abnormally increased size of the liver.
Cholestasis	HP:0001396	None	Impairment of bile flow due to obstruction in bile ducts.
Cirrhosis	HP:0001394	None	A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Abnormality of the liver	HP:0001392	None	An abnormality of the liver.
Morphological central nervous system abnormality	HP:0002011	HP:0002405,HP:0002413,HP:0002481,HP:0007319	A structural abnormality of the central nervous system.
Abnormal skin morphology of the palm	HP:0040211	None	An abnormality of the skin of the palm, that is, the skin of the front of the hand.
Abnormality of the biliary system	HP:0004297	None	An abnormality of the biliary system.
Palmar pruritus	HP:0031248	None	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.
Productive cough	HP:0031245	None	A cough that produces phlegm or mucus.
White papule	HP:0031289	None	A papule with white color.
Abnormality of skin adnexa physiology	HP:0025276	None	Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
Abnormal esophagus physiology	HP:0025270	None	Any physiological abnormality of the esophagus.
Abnormal fingertip morphology	HP:0001211	None	An abnormal structure of the tip (end) of a finger.
Abnormal sweat homeostasis	HP:0040127	None	An abnormality of the composition of sweat or the levels of its components.
Constitutional symptom	HP:0025142	None	A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
Abnormality of the hand	HP:0001155	HP:0005858	An abnormality affecting one or both hands.
Abnormality of limb bone	HP:0040068	None	None
Abnormality of limbs	HP:0040064	None	None
Orthokeratotic hyperkeratosis	HP:0025080	None	A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.
Abnormal digestive system morphology	HP:0025033	None	A structural anomaly of the digestive system.
Abnormality of digestive system physiology	HP:0025032	None	A functional anomaly of the digestive system.
Abnormality of the digestive system	HP:0025031	None	None
Biliary tract abnormality	HP:0001080	None	An abnormality of the biliary tree.
Epidermal thickening	HP:0011368	HP:0001035	Thickening of the epidermal layer of the skin.
Dermatological manifestations of systemic disorders	HP:0001005	None	None
Pediatric onset	HP:0410280	None	Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.
Abnormal liver morphology	HP:0410042	None	Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.
Acute infectious pneumonia	HP:0011949	None	Acute inflammation of the lung due to an infection.
Respiratory tract infection	HP:0011947	None	An infection of the upper or lower respiratory tract.
Obstructive azoospermia	HP:0011962	None	Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
Abnormality of the abdominal organs	HP:0002012	None	An abnormality of the viscera of the abdomen.
Recurrent infections	HP:0002719	HP:0002957,HP:0002964,HP:0005405	Increased susceptibility to infections.
Autoimmunity	HP:0002960	None	The occurrence of an immune reaction against the organism's own cells or tissues.
Abnormal respiratory system physiology	HP:0002795	HP:0005952	None
Abnormal tracheobronchial morphology	HP:0005607	HP:0005940	None
Abnormal leukocyte count	HP:0011893	None	Number of leukocytes per volume of blood beyond normal limits.
Abnormal appendicular skeleton morphology	HP:0011844	None	An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.
Abnormal bone ossification	HP:0011849	None	Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
Recurrent respiratory infections	HP:0002205	HP:0002782,HP:0002873	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Abnormal skeletal morphology	HP:0011842	None	An abnormality of the form, structure, or size of the skeletal system.
Abnormal facial skeleton morphology	HP:0011821	None	An abnormality of one or more of the set of bones that make up the facial skeleton.
Recurrent Burkholderia cepacia infections	HP:0002842	None	Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.
Recurrent fungal infections	HP:0002841	HP:0005350,HP:0005380,HP:0005388	Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
Abnormality of the lower limb	HP:0002814	None	An abnormality of the leg.
Abnormal limb bone morphology	HP:0002813	None	Any abnormality of bones of the arms or legs.
Abnormal pattern of respiration	HP:0002793	None	An anomaly of the rhythm or depth of breathing.
Abnormality of the anterior pituitary	HP:0011747	None	An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
Recurrent Staphylococcus aureus infections	HP:0002726	None	Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
Recurrent Aspergillus infections	HP:0002724	None	An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.
Recurrent bacterial infections	HP:0002718	HP:0005355,HP:0005361,HP:0005367,HP:0005391,HP:0005393,HP:0005410	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Abnormal spermatogenesis	HP:0008669	None	Incomplete maturation or aberrant formation of the male gametes.
Papule	HP:0200034	None	A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
Skin plaque	HP:0200035	None	A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.
Fat malabsorption	HP:0002630	None	Abnormality of the absorption of fat from the gastrointestinal tract.
Abnormal intestine morphology	HP:0002242	HP:0002628	An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
Biliary cirrhosis	HP:0002613	None	Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
Abnormality of the vasculature	HP:0002597	None	An abnormality of the vasculature.
Ileus	HP:0002595	None	Acute obstruction of the intestines preventing passage of the contents of the intestines.
Gastrointestinal dysmotility	HP:0002579	None	Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
Steatorrhea	HP:0002570	None	Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Abnormal circulating C-reactive protein concentration	HP:0032436	None	Any deviation from the normal concentration of C-reactive protein in the blood circulation.
Abdominal symptom	HP:0011458	None	A subjective manifestation of disease localized to the abdomen.
Abnormality of mental function	HP:0011446	None	Cognitive, psychiatric, or memory anomaly.
Recurrent gram-negative bacterial infections	HP:0005420	HP:0005395	Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.
Recurrent sinopulmonary infections	HP:0005425	None	An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
Decreased forced expiratory flow 25-75%	HP:0032359	None	A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.
Reduced forced expiratory volume in one second	HP:0032342	None	An abnormal reduction in the amount of air a person can forcefully expel in one second.
Reduced forced vital capacity	HP:0032341	None	An abnormal reduction in the amount of air a person can expel following maximal inspiration.
Recurrent Haemophilus influenzae infections	HP:0005376	None	Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.
Localized skin lesion	HP:0011355	None	A lesion of the skin that is located in a specific region rather than being generalized.
Regional abnormality of skin	HP:0011356	None	An abnormality of the skin that is restricted to a particular body region.
Intestinal obstruction	HP:0005214	HP:0005239	Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
Nontuberculous mycobacterial pulmonary infection	HP:0032261	None	An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.
Malabsorption	HP:0002024	HP:0008270	Impaired ability to absorb one or more nutrients from the intestine.
Abnormal immune system morphology	HP:0032251	None	None
Abnormal digit morphology	HP:0011297	None	A morphological abnormality of a digit, i.e., of a finger or toe.
Abnormality of urine calcium concentration	HP:0011280	None	An abnormality of calcium concentration in the urine.
Abnormality of the urinary system physiology	HP:0011277	None	None
Elevated circulating C-reactive protein concentration	HP:0011227	None	An abnormal elevation of the C-reactive protein level in the blood circulation.
Abnormal large intestine morphology	HP:0002250	None	Any abnormality of the large intestine.
Abnormal small intestine morphology	HP:0002244	None	A structural abnormality of the small intestine.
Pancreatic calcification	HP:0005213	None	The presence of abnormal calcium deposition lesions in the pancreas.
Pancreatic pseudocyst	HP:0005206	None	Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.
Pleural effusion	HP:0002202	None	The presence of an excessive amount of fluid in the pleural cavity.
Abnormal circulating metabolite concentration	HP:0032180	None	An abnormal level of an analyte measured in the blood.
Unusual fungal infection	HP:0020100	None	An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.
Hypercalciuria	HP:0002150	None	None
Abnormality of skin physiology	HP:0011122	None	Any abnormality of the physiological function of the skin.
Abnormal skin morphology	HP:0011121	None	Any morphological abnormality of the skin.
Chronic sinusitis	HP:0011109	None	A chronic form of sinusitis.
Asthma	HP:0002099	HP:0002112	Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Bronchiectasis	HP:0002110	None	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Abnormal nasal morphology	HP:0005105	None	None
Pneumothorax	HP:0002107	None	Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
Hemoptysis	HP:0002105	None	Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Abnormal pleura morphology	HP:0002103	None	An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.
Abnormal sputum	HP:0032016	None	Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.
Dyspnea	HP:0002094	None	Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Pneumonia	HP:0002090	None	Inflammation of any part of the lung parenchyma.
Abnormal lung morphology	HP:0002088	None	Any structural anomaly of the lung.
Abnormality of the upper respiratory tract	HP:0002087	None	An abnormality of the upper respiratory tract.
Abnormality of the respiratory system	HP:0002086	None	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Abnormally lax or hyperextensible skin	HP:0008067	None	None
Abnormality of fluid regulation	HP:0011032	None	An abnormality of the regulation of body fluids.
Abnormality of the gastrointestinal tract	HP:0011024	None	An abnormality of the gastrointestinal tract.
Abnormal cardiovascular system physiology	HP:0011025	None	Abnormal functionality of the cardiovascular system.
Abnormal glucose homeostasis	HP:0011014	None	Abnormality of glucose homeostasis.
Rectal prolapse	HP:0002035	None	Protrusion of the rectal mucous membrane through the anus.
Abnormal rectum morphology	HP:0002034	None	An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.
Abdominal pain	HP:0002027	None	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Diarrhea	HP:0002014	None	Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.