An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. [PMID:27738187, PMID:30728880]


Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. [PMID:27500096]


Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. [PMID:25796481]


Alternating radiolucent and radiodense metaphyseal lines

Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra. [PMID:28384951]


Multiple defects in the atrial septum. [PMID:18559707]


Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments. []


An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. [PMID:11274010]


An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. [PMID:16343244]


A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol. [PMID:14749226]


A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity. [PMID:14749226]


The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. [PMID:6876936]


Abnormal insulin like growth factor binding protein acid labile subunit level

A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. [PMID:20142246]


Reduced growth-hormone binding protein level

A decreased blood concentration of growth hormone binding protein. []


Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. [PMID:24640568]


A type of maturation arrest in which only spermatogonia or spermatocytes are found. [PMID:21684558]


Maturation arrest of spermatogenesis at spermatid stage

A type of maturation arrest in which spermatids are detected without spermatozoa. [PMID:21684558]


Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). []


A developmental defect characterized by lack of a soft palate. [PMID:11420024]


An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. []


An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. [PMID:12057070]


An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells. []


An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. []


Elevated vascular endothelial growth factor level

Increased blood concentration of vascular endothelial growth factor (VEGF). []


Coarctation in the transverse aortic arch

Narrowing or constriction of the aorta localized to the region of the transverse aortic arch. []


Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta. [PMID:23909637]


Abnormal branching pattern of left aortic arch

A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch). []


A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery. []


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. []


This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. [PMID:10362969]


This applies to an individual who needs help with dressing or needs to be completely dressed. [PMID:10362969]


This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. []


Applies to an individual who needs partial or total help with feeding or requires parenteral feeding. []


Partial or total incontinence of bowel or bladder. []


A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization. [PMID:19562053]


Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range. []


Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. []


Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range. []


Any anomaly of the structure of an organ ofthe endocrine system. []


Any anomaly of the function of the endocrine system. []


Abnormal response to endocrine stimulation test

An anomalous response to a test that is designed to probe the function of the endocrine system. []


Abnormal response to corticotropin stimulation test

Abnormal response to adrenocorticotropic-hormone stimulation test

Abnormal response to ACTH stimulation test

An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. []


Abnormal response to insulin tolerance test

An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level. []


Impaired cortisol response to insulin stimulation test

Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). []


Abnormal response to CRH stimulation test

Abnormal response to corticotropin releasing hormone stimulation test

An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. []


Impaired cortisol response to corticotropin releasing hormone stimulation test

Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test. []


Impaired growth-hormone response to insulin stimulation test

Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). []


Abnormal response to glucagon stimulation test

An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). []


Impaired cortisol response to glucagon stimulation test

Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test. []


Impaired growth-hormone response to glucagon stimulation test

Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test. []


Abnormal response to hCG stimulation test

Abnormal response to human chorionic gonadotrophin stimulation test

An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors. []


Excessive insulin response to glucagon test

An abnormally high increase in insulin levels following a glucagon stimulation test. [PMID:21791970]


A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status. [PMID:17138848]


The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur. []


Any anomaly of the structure of the humerus. []


A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. []


Abnormal circulating thyrotropin concentration

Abnormal thyroid-stimulating hormone level

Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. []


A reduced concentration of inhibin B in the blood. [PMID:11720872]


Abnormal circulating antimullerian hormone concentration

Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. [PMID:22693172]


An elevation above the normal range of the antimullerian hormone in the circulation. []


A reduction below the normal range of the antimullerian hormone in the circulation. []


The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. [PMID:3280181]


Any anomaly of the structure of the uterus []


An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. [PMID:23771171]


Reduced width of the cross sectional diameter of the fibula. []


A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. [PMID:17467434]


A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size. [PMID:17467434, PMID:24827036]


Bicuspid aortic valve with right-left cusp fusion

A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. [PMID:17467434, PMID:24827036]


Bicuspid aortic valve with right-noncoronary cusp fusion

A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure. []


Bicuspid aortic valve with left-noncoronary cusp fusion

A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure. []


A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. [PMID:17467434]


Decreased platelet thromboxane A2 receptor

Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2). []


Decreased platelet alpha-2A-adrenergic receptor

Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine. []


Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. []


Impaired convulxin-induced platelet aggregation

Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin. []


Impaired collagen-related peptide-induced platelet aggregation

Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP. []


Impaired phorbol myristate acetate-induced platelet aggregation

Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA. []


Impaired Ca ionophore-induced platelet aggregation

Impaired Ca2+ ionophore-induced platelet aggregation

Impaired calcium ionophore-induced platelet aggregation

Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore. []


Abnormal platelet phosphatidylserine exposure

An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. [PMID:12814644]


Impaired annexin V binding to platelet phosphatidylserine

Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. []


Increased annexin V binding to platelet phosphatidylserine

Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. []


A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum. [PMID:22379596]


Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue). []


A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. []


Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. []


Abnormal B-type natriuretic peptide level

A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). [PMID:22145138]


A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. []


An abnormal appearance of the liver or any of its components on sonography (ultrasound). []


Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. [PMID:21472065]


Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). [PMID:21472065]


Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device. [PMID:21472065]


The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography. []


Starry sky appearance on hepatic sonography

An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background). [PMID:26157918]


An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. [PMID:16776766]


Membranous anomaly
Membranous vitreous
Membranous vitreous phenotype

Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. [PMID:20513134, PMID:21921955]


Vitreous humor of the eye displaying beaded bundles of irregular diameters. [PMID:20513134, PMID:21921955]


Increased Arden ratio of electrooculogram

An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. []


Decreased platelet cell membrane concentration of glycoprotein Ib. [PMID:11157507]


An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. [PMID:22353005]


A reduction in the thickness of Descemet's membrane. []


An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). [PMID:24123328]


Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. [PMID:27785002]


Reduced bone mineral density of the femur. [PMID:19580459]


Triggered by ingestion of K-rich food
Potassium-rich food triggered symptoms

Triggered by ingestion of potassium-rich food

Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium. [PMID:19472919]


A pregnancy that extends to 42 weeks of gestation or beyond. [PMID:24753906]


A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck. []


A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration. []


A bony projection (spur, osteophyte) originating from the tibia. []


A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine. []


A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine. []


Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. [PMID:15668452]


Head is bent in the posterior direction in a permanent fashion. [PMID:25288843]


Increased circulating NT-proBNP concentration

An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP). []


Abnormal circulating deoxycorticosterone level

An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone. []


Abnormality of circulating pregnenolone level

Abnormal circulating pregnenolone concentration

An abnormality of the concentration of pregnenolone in the blood. [PMID:24849255]


Always present, i.e. in 100% of the cases. []


A structural anomaly of the muscles of the trunk and head. []


Steatosis of skeletal muscles
Steatosis of skeletal muscle


Duplication of tongue
Tongue duplication
Tongue duplicated


Abnormally placed eyebrows
Abnormal location of eyebrows

Anomalous anatomical placement of the eyebrow. []


Decreased circulating free fatty acid level


Abnormal circulating free fatty acid level

Abnormal circulating free fatty acid concentration

Any deviation from the normal concentration of a free fatty acid in the blood circulation. []


Duplicated sella turcica
Duplicate sella turcica


Increased desire for sexual activity on the part of a male. []


Reduced desire for sexual activity on the part of a male. []


An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures. []


An abnormal red-brown color of the urine. []


An abnormal purple color of the urine. []


In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower. []


Hypoplastic olfactory bulb
Hypoplasia of olfactory bulb

Underdevelopment of the olfactory bulb. [HPO:skoehler]


Abnormal morphology of the olfactory bulb

An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. [HPO:skoehler]


A decreased or reduced level of the enzyme lactate dehydrogenase in serum. []


Irregularity of the normally smooth surface of the distal metaphysis of the femur. []


Decreased proportion of CD3-positive T cells

Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells. []


Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. [HPO:probinson]


Dilatation of superior mesenteric artery

Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery . [HPO:probinson]


Dilatation of Inferior mesenteric artery

Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery . [HPO:probinson]


Decreased 3-hydroxyacyl-CoA dehydrogenase level


Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency


Fish odour
Fishy odour
Fishy odor
Fishy body odour
Fishy body odor

Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. [http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm]


A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). [PMID:16086821]


Abnormal distribution of cell junction proteins in buccal mucosal cells

An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. [PMCID:PMC4785796]


Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. [http://www.cleftline.org/who-we-are/what-we-do/publications/submucous-clefts/]


One sided alveolar cleft of the maxilla. []


Nonmidline alveolar cleft of the maxilla. []


Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. [PMID:27843899, PMID:7575269]


Abnormality of gonadotropin-releasing hormone level

Abnormal gonadotropin-releasing hormone concentration

A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH). [HPO:probinson]


Lack of gonadotropin-releasing hormone pulsatility

Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. [HPO:probinson]


Abnormal test result of cardiovascular physiology. []


Abnormal cardiac magnetic resonance imaging

Abnormal results of a MRI for the heart. []


Abnormal cardiac exercise test
Abnormal treadmill test

Abnormal results of exercise on heart function. []


Abnormal resting energy expenditure from metabolic cart test

Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2). [http://emedicine.medscape.com/article/2009552-overview]


Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers]


Reduced brain gamma-aminobutyric acid level by MRS

An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). [ORCID:0000-0003-0169-8159, PMID:27388694]


Abnormal serum dehydroepiandrosterone level

Abnormal circulating dehydroepiandrosterone concentration

A deviation from the normal concentration of dehydroepiandrosterone in the circulation. [PMID:27979632]


Aplasia of the musculature of the pelvis

Absence of the musculature of the pelvis. []


Hypoplasia of the musculature of the pelvis

Underdevelopment of the musculature of the pelvis. []


Absence of the colon
Aplasia of the colon


Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. [PMID:20460383]


Change in normal glycogen storage content. [PMID:26835382]


An elevation in bone density in one or more carpal bones of the hand. [PMID:21120491]


Aberrant neuronal branching
Abnormal neuronal branching

Abnormality of the structure and branching of the dendrites of a neuron. [PMID:20404840]


Presence of a monoclonal immunoglobulin M protein in the serum. [HPO:probinson, PMID:25815903]


An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. [PMID:2307214]


Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis. [PMID:25864701]


Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. []


Increased circulating lactate dehydrogenase concentration

An elevated level of the enzyme lactate dehydrogenase in the blood circulation. []


Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm. []


An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. []


A deviation from the normal concentration of serum bile acid concentration. []


Meiotic maturation arrest of spermatogenesis

Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. [PMID:21684558]


Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. [PMID:12790766]


Fetal masculinization of female external genitalia. []


A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. [COST:neuromig, PMID:21219302]


A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. [COST:neuromig, PMID:21219302]


The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones. []


Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum. [PMID:28250456]


A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. [PMID:19933510, PMID:32779696]


Allergic reaction to venoms in insect bites and stings that is triggered by the immune system (i.e., HISTAMINE RELEASE).


Abnormal macular morphology
Macular abnormality
Macula abnormality

A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. [HPO:probinson, PMID:16255686]


An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)


Reduced IgG levels
Decreased gamma-globin expression
Decreased IgG level
Decreased immunoglobulin G


Anomaly of the basal ganglia
Abnormality of the basal ganglia

Abnormality of the basal ganglia. [HPO:probinson]


A congenital disorder characterized by blockage or absence of the extrahepatic bile ducts.


High blood tryptophan concentration
Hypertryptophanemia

An increased amount of tryptophan in the blood. [https://orcid.org/0000-0001-7941-2961]


An increase in the diameter of the ring (annulus) of the mitral valve. []


Increased circulating copper concentration

An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration. []


Urine has an increased amount of frothy fine bubbles. []


A pulmonary nodule with well-defined margins and homogenous soft-tissue attenuation on CT scan examination.


A term that refers to a pure ground-glass pulmonary nodule or a part-solid pulmonary nodule on CT scan examination.


A term that refers to a pulmonary nodule in which there are no completely obscured parenchymal areas by the ground-glass opacity on CT scan examination.


Impaired cellular adaptive immune response


Deposits accumulating between the outer retina and the retinal pigment epithelium. []


A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. []


Elevated circulating ribitol concentration

An increase above the normal concentration of ribitol in the blood. []


Abnormal sex hormone-binding globulin level

A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood. [PMID:26761949]


Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose. []


Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk. [PMID:3954464, RGD:gthayman]


Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). [MP:0002151]


Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. [MP:0000598]


Abnormal T-cell activation
Abnormal T-lymphocyte activation
Abnormal T lymphocyte activation

Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. []


An abnormally increased thickness of a leaflet of the aortic valve. [Fyler:1486, PMID:9360334]


Any structural anomaly of the aortic valve leaflets. [Fyler:1480]


Abnormal pulmonary valve cusp morphology

Any structural anomaly of the pulmonary valve leaflets. [Fyler:1652]


An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. [Fyler:3817]


An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism). [PMID:21731561]


A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch. [PMID:22073330]


Coronary cameral fistula to right ventricle

An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle. [MP:0011684]


An abnormal communication between coronary artery and a cardiac chamber. [PMID:26240737]


Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry. []


Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry. []


Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry. []


Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry. []


Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. []


Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry. []


Reduced granulocyte surface marker level

Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry. []


Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry. []


Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry. []


Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules. []


Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). []


Abnormally low T cell receptor excision circle level

Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. [PMID:22001765]


Elevated plasma palmitoleylcarnitine, C16:1

Elevated plasma propionylcarnitine, C3:0

Elevated circulating O-propionylcarnitine concentration

Elevated circulating palmitoleylcarnitine concentration

An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency. []


Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. [PMID:18974994]


Linear C3 deposits along the epidermal basement membrane zone

Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. [PMID:24160488]


Linear IgG deposits along the epidermal basement membrane zone

Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. [PMID:24160488]


Linear IgA deposits along the epidermal basement membrane zone

Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. [PMID:24160488]


Abnormal dermoepidermal junction morphology

Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. [PMID:1097542]


Separate origin of the left anterior descending and left circumflex artery

Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). [PMID:27358682]


Increased theta frequency activity in EEG

Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. []


Passive dorsiflexion of the 5th finger more than 90 degrees

An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. [PMID:24358988]


Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci. []


Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus. []


Deposits accumulating between the retinal pigment epithelium and Bruch's membrane. []


Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci. []


Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution. []


Edema/fluid accumulating within the retinal layers. []


Cauliflower deformity of dermal collagen fibrils

An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy. [PMID:3224502]


Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. [PMID:24574560]


Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells. []


Increased proportion of exhausted T cells

An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. [PMID:26544946]


Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands. []


Abnormal cutaneous collagen fibril morphology


Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees. [PMID:2713193]


A transverse linear fissure (crease) in the lobule of the ear. []


Abnormally dry skin in the area of the nipple of the breast. []


Any deviation from the normal range of the hormones produced by the thyroid gland. [PMID:28932413]


Decreased circulating thyroxine level
Reduced T4 plasma level

A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). []


An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). []


A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). []


Waking up at night gasping for breath. []


An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles. [PMID:23439060]


A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. [PMID:28501848]


A subtype of colorectal carcinoma with mucin lakes. []


Mucinous cystic neoplasm of the pancreas

Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma. [NCIT:C41247, PMID:21128317]


A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. [PMID:26618117]


A vascular malformation located in the lip that is related to abnormal vascular morphogenesis. [PMID:26618117]


Atypical connection between arteries and veins

A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. [PMID:26618117]


A vascular malformation located in the lip that is characterized bynectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. []


An anomaly of blood vessels located in the lip. []


A form of hemolytic anemia that can be triggered by cold temperatures. []


Reduced contraction of the left ventricular apex

Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography. [PMID:8077532]


Abnormal regional left ventricular contraction

A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle. []


Any functional anomaly of the mitral valve. []


Abnormal mitral valve leaflet morphology

Any structural anomaly of the leaflets (also known as cusps) of the mitral valve. []


Abnormal mitral valve annulus morphology

Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. []


Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells). []


Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy. [PMID:23902698]


A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. [PMID:23902698]


A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. [PMID:23902698]


A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products. [PMID:26006236]


Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue. []


Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. [PMID:18195376]


A gangioleneuroma originating from sympathetic ganglion cells in the abdomen. []


Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions. [PMID:22356325]


Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. [PMID:22356325]


Lower extremity subcutanous fat hypertrophy

An abnormal increase in the amount of subcutaneous fat in the legs. [PMID:24788242]


A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge. []


Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals. []


Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles. []


Multiple pigmented macules located on the skin of the penis. []


A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth. []


An increase in the diameter of the ring (annulus) of the tricuspid valve. [PMID:3958362]


Abnormal tricuspid valve leaflet morphology

Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve. []


Abnormal tricuspid chordae tendinae morphology

Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve. []


Abnormal tricuspid valve annulus morphology

Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. []


A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels. [PMID:12855585, PMID:23555012]


A speech pattern characterized by abnormally elevated variability of the pitch of the voice. []


A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice. []


An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm. []


Repeated and inappropriate mechanical repetition of actions. []


Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others. []


A reduced level of osteocalcin in the blood. [RGD:sjwang]


An elevated level of osteocalcin in the blood. [RGD:sjwang]


A deviation from the normal concentration of osteocalcin in the blood circulation. [PMID:23737779, PMID:25577163, RGD:sjwang]


Decreased circulating beta-CrossLaps level

Decreased circulating beta-C-terminal telopeptide level

A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. [RGD:sjwang]


Increased circulating beta-CrossLaps level

Increased circulating beta-C-terminal telopeptide level

A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. [RGD:sjwang]


Abnormal circulating beta-CrossLaps level

Abnormal circulating beta-C-terminal telopeptide level

A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover. [PMID:15309383, RGD:sjwang]


Reduced size of the cerebellar cortex. [RGD:gth]


Abnormal morphology of the cerebellar cortex

Any structural anomaly of the cortex of the cerebellum. []


Reduced size of the superior frontal portion of the cerebral cortex. [RGD:gth]


Small yellow foveal lesion with surrounding grey zone

Small yellow foveal lesion with surrounding gray zone

A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity. [ORCiD:0000-0002-2244-7917, PMID:25323644, PMID:28611647]


Reduced sex -hormone binding protein level

A decreased concentration of sex-hormone binding protein in the circulation. [RGD:sjwang]


Increased serum 1,25-dihydroxyvitamin D3

An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. [PMID:24246681, RGD:sjwang]


High serum calcidiol
High serum 25-hydroxycholecalciferol

An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3. [RGD:sjwang]


An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. []


Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. []


Abnormal distribution of CD56 bright/dim NK cells

Abnormal distribution of CD56 bright/dim natural killer cells

An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells. [PMID:19278419]


Increased proportion of CD25+ mast cells

An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). [PMID:15371947, PMID:18684881, PMID:22222639]


Impaired cytokine signalling
Cytokine signalling defect
Cytokine signaling defect

A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. []


Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. []


An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). []


Impaired pathogen-specific CD8 cytoxicity

Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. [PMID:11911826]


Impaired Ag-specific T cell proliferation

Antigen-specific T cell proliferation defect

Reduced antigen-specific T cell proliferation

Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. []


Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. []


Abnormal Double negative Treg distribution

Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution

Abnormal double-negative alpha-beta regulatory T cell distribution

Abnormal proportion of double-negative alpha-beta regulatory T cell

An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. [PMID:16285891, PMID:22294241]


Increased proportion of naive thymus-derived, alpha-beta T cells

An abnormally increased proportion of naive T cells relative to the total number of T cells. [PMID:12133935]


Decreased proportion of naive thymus-derived, alpha-beta T cells

An abnormally decreased proportion of naive T cells relative to the total number of T cells. [HPO:probinson, PMID:12133935]


Abnormal proportion of naive thymus-derived, alpha-beta T cells

Any abnormality in the proportion of naive T cells relative to the total number of T cells. [PMID:12133935]


Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. [PMID:29095912]


Abnormal proportion of CD8-positive, alpha-beta T cells

Abnormal proportion of CD8-positive T cells

Any abnormality in the proportion of CD8 T cells relative to the total number of T cells. []


Abnormal proportion of CD4-positive, alpha-beta T cells

Abnormal proportion of CD4-positive T cells

Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. []


An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface. []


A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. []


The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus. [PMID:27107657]


Increased multinucleated megakaryocyte count

The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow. [PMID:27107657]


The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. [PMID:27107657]


The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. [PMID:27107657]


A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes. []


Abnormal lymphocyte surface marker expression

Abnormal amount of a protein that is normally present on the cell surface of lymphocytes. []


Defective lymphocyte proliferation to anti-CD3

Defective proliferation of lymphocytes following anti-CD3 stimulation

Decreased lymphocyte proliferation in response to anti-CD3

A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3. []


Reduced lymphocyte proliferation to mitogen

Decreased lymphocyte proliferation in response to mitogen

A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA). []


Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population. []


Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. []


Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. []


Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population. []


Increased rigidity and reduced mobility of the tongue. []


Increased muscle weakness upon exposure to cold temperatures. [PMID:20803025]


Purpura that is flat (non-palpable, not raised). []


Sex-limited autosomal recessive inheritance

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 homozygotes in a sex-specific manner (i.e. only in males or only in females). []


A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening). []


Waking up several times during the night

Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. []


A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. [PMID:24932362]


An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus. []


An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum. []


An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. [PMID:11292918]


An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum. []


A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids. []


Abnormal cadiomyocyte dystrophin staining

Anomalous staining of dystrophin in cardiomyocytes. [PMID:23330010]


Abnormal cardiomyocyte plakoglobin staining

Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. [PMID:25196244]


Abnormal cardiomyocyte connexin43 staining

Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. [PMID:20167932]


Abnormal localization of mitochondria within the nuclei of cardiomyocytes. [PMID:22948484]


Abnormal cardiomyocyte mitochondrial morphology

An anomaly of the structure of mitochondria within cardiomyocytes. []


Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes. []


A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. [PMID:22311886, PMID:7788887]


Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris. []


Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. []


Perivascular myocardial immune cell infiltration

An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels. []


A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. [PMID:10435025]


A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces. [PMID:10435025]


A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining. [PMID:22949539]


Monoclonal light chain cardiac amyloidosis

A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. [PMID:28456755]


The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium. []


The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin. [PMID:26140040]


An increase in the number of eosinophils in myocardial tissue. []


An increase in the number of lymphocytes in myocardial tissue. []


An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium). []


An abnormal increase in the number of mitochondria per cardiac myocyte. []


Intramyocardial fat infiltration
Fatty infiltration of cardiac ventricle

Fatty replacement of ventricular myocardial tissue

Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue. []


Abnormal ventricular myocardium morphology

A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial). []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery. []


Lower extremity peripheral artery calcification

Lower extremity peripheral arterial calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. [PMID:24402839, PMID:26811161]


A deviation from the normal concentration of properdin in the blood. [PMID:16301317]


An abnormal increase in magnitude of the pressure in the left atrium. []


Enlarged coronary sinus
Coronary sinus dilatation

Abnormal increase in size of the coronary sinus. []


An abnormal increase in the thickness of the atrial septum. [PMID:12664819]


Underdeveloped, small right heart atrium. []


Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. [PMID:14708109, PMID:21600032]


The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. [PMID:18809899]


Redness surrounding the hair follicles. [PMID:24574696]


Any structural anomaly in the areas surrounding the hair follicles. []


The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice. []


A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. [PMID:27171597]


Increased LH response to gonadotropin-releasing hormone stimulation test

An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test. [PMID:22016677]


Abnormal response to GnRH stimulation test

Abnormal response to gonadotropin-releasing hormone stimulation test

An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). [PMID:22016677]


Any structural anomaly of the thoracic duct. []


Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery. []


The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination. []


Reduced IL2RA upregulation upon TCR activation

Poor CD25 upregulation upon TCR activation

Decreased CD25 upregulation upon TCR activation

Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR). [ORCID:0000-0001-5208-3432]


Abnormal CD25 upregulation upon TCR activation

Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. [ORCID:0000-0001-5208-3432, PMID:12121224]


Decreased CD69 upregulation upon TCR activation

Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). [ORCID:0000-0001-5208-3432]


Abnormal CD69 upregulation upon TCR activation

Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. [ORCID:0000-0001-5208-3432]


Abnormal visceral epithelial cell morphology

Abnormal glomerular visceral epithelial cell morphology

Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. [PMID:10662721, PMID:26918173]


Abnormal renal glomerular capsule morphology

A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. []


Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. []


A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. [PMID:18616733]


Arteriovenous malformation of the maxilla

An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. [PMID:17082338, PMID:23125071]


An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. [PMID:23125071]


An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus. [PMID:23125071]


An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. [PMID:23125071]


Anomalous origin of left subclavian artery

Origin of the left subclavian artery from an anomalous anatomical location. []


Abnormally increased caliber of the left subclavian artery. []


Decreased circulating very-low-density lipoprotein levels

Decreased VLDL cholesterol concentration

A reduction in the amount of very-low-density lipoprotein cholesterol in the blood. []


Decreased circulating chylomicron levels

Decreased circulating chylomicron concentration

Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. []


A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea. []


A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea. []


A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea. []


A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. [PMID:19084976]


Internally nucleated skeletal muscle fibres

Internally nucleated skeletal muscle fibers

An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. [PMID:22938878]


Predominantly dermal neutrophilic infiltrate

Collection of neutrophils in the dermis. [PMID:17675728]


Predominantly epidermal neutrophilic infiltrate

Collection of neutrophils in the epidermis. [PMID:17675728]


A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin). []


Breadth of the incisura from the anterior to posterior border greater than that observed in the average population. [PMID:20082456]


Width of the incisura from the anterior to posterior border less than that observed in the average population. [PMID:20082456]


The length of the incisura from the upper to lower border is less than that observed in the average population. [PMID:20082456]


The length of the incisura from the upper to lower border is greater than that observed in the average population. [PMID:20082456]


An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. [PMID:20082456]


A teratoma arising in the nasopharyngeal region. [PMID:23056797]


Hyperplasia of the islets of Langerhans with a generalized distribution. []


Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others. []


Increased circulating thyroxine-binding globulin level

An elevated concentration of thyroxine-binding globulin (TBG) in the blood. []


Abnormal radioactive iodine uptake test result

Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. []


A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. []


An elevated concentration of progesterone in the blood. []


Decreased circulating dehydroepiandrosterone-sulfate level

Decreased circulating dehydroepiandrosterone-sulfate concentration

A reduced concentration of dehydroepiandrosterone-sulfate in the blood. []


Decreased circulating dehydroepiandrosterone level

Decreased circulating dehydroepiandrosterone concentration


An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. []


Abnormal circulating hyaluronic acid concentration

A deviation from the normal concentration of hyaluronic acid in the blood. [PMID:11861239]


Decreased circulating lipoprotein lipase concentration

Reduction in the level of lipoprotein lipase in the blood. [PMID:18194851, PMID:30725725]


Increased pituitary glycoprotein polypeptide alpha subunit level

Increased pituitary glycoprotein alpha subunit level

Increased pituitary glycoprotein hormone alpha subunit level

An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. []


Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging. [PMID:27058447]


Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. [PMID:22227072]


A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. [PMID:26079824]


A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells. []


A type of cellular urinary cast composed of renal tubular epithelial cells. []


Reduced thickness of the outer, dense layer of the myocardium. []


Apical hypertrabeculation of the left ventricle

An increased number and density of the trabeculae in the apex (tip) of the left ventricle. []


Increased density of left ventricular trabeculae

An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae). []


Abnormal morphology of right ventricular trabeculae

Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae). []


Abnormal morphology of left ventricular trabeculae

Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). []


Deep perivascular inflammatory infiltrate

Deep dermal perivascular inflammatory infiltrate

Numerous lymphocytes surrounding blood vessels in the deep part of the dermis. []


Superficial perivascular inflammatory infiltrate

Superficial dermal perivascular inflammatory infiltrate

Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis. []


Any anomaly of the function of the breast. []


Any anomaly of the structure of the breast. []


Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails. []


Periorbital ecchymosis with tarsal plate sparing

Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. [PMID:20411091]


Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding. []


Optic pathway misrouting
Visual pathway misrouting

Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). []


Any structural abnormality of the coronary arteries. [HPO:probinson]


Peripheral arterial stenosis with onset before the age of 50 years. []


The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen. [PMID:23710135]


An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities, PMID:24075092]


Sperm cells lacking flagella. [PMID:30867909]


Sperm cells with abnormally short flagella. [PMID:30867909]


Sperm cells whose flagella are twisted (coiled). [PMID:28552195]


Dysplasia of the superior cerebellar vermis


The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. [PMID:27127725]


A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. [PMID:28631987]


A small break in the retina. [HPO:probinson]


Aplasia/hypoplasia of the extremities
Absent/underdeveloped extremities
Short or absent limbs
Shortened limbs

Absence (due to failure to form) or underdevelopment of the extremities. [HPO:probinson]


A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. [HPO:probinson]


An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). [PMID:16252026]


Forked uvula
Split uvula
Bifid palatine uvula
Cleft of uvula
Bifid uvula
Uvula bifida

Uvula separated into two parts most easily seen at the tip. [PMID:19125428]


A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder. [Eurenomics:fschaefer]


A gonad that contains both ovarian follicles and testicular tubular elements. [HPO:probinson]


An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.


Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. [HPO:probinson, PMID:15102623]


Situs inversus totalis
situs oppositus
All organs on wrong side of body

A left-right reversal (or mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [DDD:dbrown, HPO:probinson]


Diffusely large eye (with megalocornea) associated with glaucoma. []


An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. [UToronto:chum]


Lateral rectus muscle denervation paresis


A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). [HPO:probinson, PMID:16344298]


Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. []


Congenital onset of a marked decrease in the number of granulocytes. [HPO:probinson]


Obesity in which excess fat is accumulated primarily in the area of the abdomen.


Small head circumference
Decreased size of skull
Decreased size of cranium
Small skull
Reduced head circumference
Decreased circumference of cranium
Decreased size of head
Abnormally small skull
Abnormally small head
small calvarium
Abnormally small cranium
Small head
Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender. [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597]


Narrow nasal root
Narrow bridge of nose
Nasal bridge, thin
Narrow nasal bridge
Nasal Bridge, Narrow

Decreased width of the bony bridge of the nose. [PMID:19152422]


A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. [HPO:probinson, PMID:26745253]


Any structural abnormality or abnormal count of granulocytes. [HPO:probinson]


partial or complete syndactyly 2nd-3rd toes

Syndactyly with fusion of toes two and three. [HPO:sdoelken]


Decrease in size of the outer layer of the brain due to loss of brain cells

Atrophy of the cortex of the cerebrum. [HPO:probinson]


Partial or complete wasting (loss) of brain tissue that was once present. [HPO:probinson]


Increased circulating high-density lipoprotein levels

An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. [HPO:probinson]


Kidney malformation
Abnormally shaped kidney
Structural renal anomalies
Structural anomalies of the renal tract
Abnormal renal morphology
Structural kidney abnormalities
Abnormal kidney morphology
Renal malformation

Any structural anomaly of the kidney. [HPO:probinson]


Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. [PMID:19398672]


A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.


Recurring pancreas inflammation
Recurring pancreatitis

A recurrent form of pancreatitis. [HPO:probinson]


Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. [DDD:gblack]


Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. [HPO:curators]


Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males.


Narrowing of esophagus due to inflammation and scar tissue

Narrowing of oesophagus due to inflammation and scar tissue

Narrowing of the lumen of the esophagus.


Altman type IV sacrococcygeal teratoma
Retrorectal teratoma

A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). [HPO:probinson]


A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. [UManchester:psergouniotis]


A type of sideroblastic anemia that is not responsive to treatment. [HPO:probinson]


A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. [ORCID:0000-0003-0986-4123]


Palmar and plantar keratoderma
Palmoplantar keratoderma

Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).


An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. [HPO:probinson]


Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. [PMID:9514174, UToronto:chum]


Pheochromocytomas, adrenal
Adrenal pheochromocytoma

A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.


Paralysed diaphragm
Diaphragmatic paralysis

The presence of a paralyzed diaphragm. [HPO:probinson, PMID:3612666]


A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.


An umbilical cyst that arises from allantoic tissue that did not regress during gestational development. Most cases involve a patent urachus that allows for communication to the urinary bladder.


A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings. []


A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. [HPO:probinson]


An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. [HPO:probinson, PMID:20212494]


An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. [ORCID:0000-0003-0986-4123]


A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.


A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. [ORCID:0000-0003-0986-4123]


Excessive daytime somnolence
Excessive daytime sleepiness

A state of abnormally strong desire for sleep during the daytime. []


Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections [ORCID:0000-0001-7941-2961]


Blue and green cones only; no functional red cones. [DDD:gblack]


Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. [HPO:probinson, PMID:10084535]


Urticaria caused by physical agents, such as heat, cold, light, friction. [PMID:11702618]


Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). [DDD:rscott]


Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). [DDD:rscott]


Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. [HPO:ihelbig]


Diaphyseal sclerosis
Diaphyseal osteosclerosis
Craniodiaphyseal osteosclerosis

An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]

Increased bone density in shaft of long bone


An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase. [HPO:probinson]


Hypertensive disorder of pregnancy
Toxemia of pregnancy

A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.


Teeth, double
Twinning tooth
Double tooth

Fusion of two adjacent teeth. [HPO:ibailleulforestier, PMID:31468724]


Total anomalous pulmonary venous drainage

A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth.

Total anomalous pulmonary venous connection


A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. [HPO:probinson]


Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. [HPO:probinson]


Sclerosis (increased density) affecting vertebral end plates. [HPO:curators]


Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. [HPO:probinson]


Horizontal nystagmus dating from or present at birth. [HPO:curators]


A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). [DDD:spark]


An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. []


A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.


A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension. [PMID:2503273]