Disorder of maxillary and mandibular dental arch relationship

Hypoplasia of maxilla relative to mandible

Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw). [https://orcid.org/0000-0001-5889-4463, https://www.researchgate.net/publication/277918795_Nonsyndromic_oligodontia_A_rare_case_report]


Disorder of mandibular and maxillary dental arch relationship

Hypoplasia of mandible relative to maxilla

Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw). [https://orcid.org/0000-0001-5889-4463]


Increased anti-dairy protein IgE antibody level

Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products. [PMID:26433529]


Increased level of anti-animal protein IgE antibody

Increased anti-animal protein IgE antibody level

Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine. [PMID:8543754]


Increased level of anti-seafood IgE antibody

Increased anti-seafood IgE antibody level

Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone. [PMID:14719162]


Increased level of anti-dust mite IgE antibody

Increased anti-dust mite IgE antibody level

Increased level of IgE antibody against dust mites, such as house dust mites. [https://www.atsjournals.org/doi/abs/10.1164/arrd.1982.125.1.80]


Increased level of anti-bacteria IgE antibody

Increased anti-bacteria IgE antibody level

Increased level of IgE antibody against bacteria. []


Increased level of anti-drug IgE antibody

Increased level of IgE antibody against a drug or class of drugs, such as antibiotics. [PMID:7835691]


Increased anti-feather IgE antibody level

Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers. [PMID:9534914]


Increased level of anti-food allergen IgE antibody

Increased anti-food allergen IgE antibody level

Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. [PMID:23229594]


Increased level of anti-plant based food allergen IgE antibody

Increased anti-plant based food allergen IgE antibody level

Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits. [PMID:26549334]


Increased level of anti-gluten IgE antibody

Increased anti-gluten IgE antibody level

Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye. [PMID:25788950]


Increased anti-nut food product IgE antibody level

Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds. [PMID:12915766, PMID:23229594]


Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid. [PMID:11591198]


Increased anti-fungal IgE antibody level

Increased anti-fungus IgE antibody level

Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota. [PMID:12402012]


Increased anti-meat allergen IgE antibody level

Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken. [PMID:30182427]


Increased anti-parasite IgE antibody level

Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii. [https://doi.org/10.1007/s40475-015-0058-7]


Increased anti-insect IgE antibody level

Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches. [PMID:21913205]


Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets. [PMID:21913205]


Increased anti-plant product IgE antibody level

Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen. []


A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg). [PMID:21947466]


Detection of cocaine or its major metabolite, benzoylecgonine, in urine. []


Detection of barbiturate metabolites such as Phenobarbital in urine. [ORCID:0000-0001-7941-2961]


Postive urine pot test
Positive urine marijuana test

Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine. []


Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine. []


Detection of amphetamine or its metabolites in urine. []


Detection of opioids or opioid metabolites in urine. []


Abnormal stool urobilinogen concentration

Abnormal concentration of urobilinogen present in the stool. [ORCID:0000-0001-7941-2961]


Increased stool urobilinogen concentration

An increased amount of urobilinogen present in the stool. [ORCID:0000-0001-7941-2961]


Detection of barbiturate metabolites such as Phenobarbital in blood. [ORCID:0000-0001-7941-2961]


Abnormal concentration of urate in the cerebrospinal fluid (CSF). [ORCID:0000-0001-7941-2961]


A decreased amount of valine in the blood. [https://orcid.org/0000-0001-7941-2961]


Low blood tyrosine concentration
Decreased tyrosine in blood

An decreased concentration of tyrosine in the blood. [https://orcid.org/0000-0001-7941-2961]


Decreased tryptophan in blood
Low blood tryptophan concentration

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


Decreased circulating threonine levels
Decreased threonine blood levels
Low blood threonine concentration

A decreased amount of threonine in the blood. [https://orcid.org/0000-0001-7941-2961]


High blood serine levels
Elevated circulating serine levels
Increased serine blood concentration

An increased amount of serine in the blood. []


Decreased blood proline levels
Low blood proline concentration

A decreased amount of proline in the blood. [http://orcid.org/0000-0001-7941-2961]


Low level of hydroxyproline in the blood

Decreased circulating hydroxyproline concentration

A decreased amount of hydroxyproline in the blood. [PMID:4690509]


Decreased blood phenylalanine
Low blood phenylalanine

A decreased amount of phenylalanine in the blood. [http://orcid.org/0000-0001-7941-2961]


Low blood lysine levels
Decreased blood lysine

A decreased amount of lysine in the blood. [http://orcid.org/0000-0001-7941-2961]


Decreased blood concentration of leucine

Decreased amount of leucine in the blood. [http://orcid.org/0000-0001-7941-2961]


Decreased blood isoleucine concentration

A decreased amount of isoleucine in the blood. [http://orcid.org/0000-0001-7941-2961]


Low blood histidine levels
Decreased blood histidine concentration

A decreased amount of histidine in the blood. [http://orcid.org/0000-0001-7941-2961]


Low blood glutamine level
Decreased blood glutamine concentration

Decreased amount of glutamine in the blood. [http://orcid.org/0000-0001-7941-2961]


Abnormal circulating glutamate concentration

Any deviation from the normal concentration of glutamate in the blood circulation. []


Increased blood glutamate concentration
High blood glutamate levels

An increased amount of glutamate in the blood. [PMID:22949847]


Decreased blood glutamate concentrations

A decreased amount of glutamate in the blood. [PMID:22949847]


Increased blood cystine concentraions
High blood cystine levels

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


Decreased blood cystine concentration
Low blood cystine levels

A decreased amount of cystine in the blood. [http://orcid.org/0000-0001-7941-2961]


Decreased blood alanine concentration
Low blood alanine levels

A decreased amount of alanine in the blood. [http://orcid.org/0000-0001-7941-2961]


Abnormal circulating asparagine concentration

Any deviation from the normal concentration of asparagine in the blood circulation. [http://orcid.org/0000-0001-7941-2961]


Increased blood asparagine concentration

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


Decreased blood asparagine concentration

A decreased amount of asparagine in the blood. [http://orcid.org/0000-0001-7941-2961]


High blood aspartic acid levels
Increased blood aspartic acid

Increased level of circulating aspartic acid

An increased amount of aspartic acid in the blood. [PMID:7353275]


Abnormal circulating carnosine concentration

Any deviation from the normal concentration of carnosine in the blood circulation. [ORCID:0000-0001-7941-2961, PMID:20017611]


Increased blood carnosine concenrtation
High blood carnosine levels

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


Low blood carnosine levels
Decreased blood carnosine concentration

A decreased amount of carnosine in bood. [http://orcid.org/0000-0001-7941-2961]


Any deviation from the normal concentration of a carboxylic acid in the urine. []


Higher than normal levels of lactate in blood


Increased left ventricular end-diastolic volume

Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). []


Congenital absence of the right-sided diaphragm. []


Fusion of the liver with the lung. [PMID:28196822]


Hypersensitivity in form of an adverse immune reaction against cow milk protein. [HPO:sdoelken]


Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.


Anomaly of the testes
Abnormality of the testis

An anomaly of the testicle (the male gonad). [HPO:probinson]


Deviation of finger
Atypical position of finger
Deviated fingers

Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. [HPO:curators]

Finger pointing in a different direction than usual


Epidermal detachment
Skin sloughing
Skin detachment


A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.


A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. []


Hypersensitivity in form of an adverse immune reaction against insects. []


HbC haemoglobin
HbC hemoglobin
Hemoglobin C

Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis. [PMID:15215497, PMID:20301551]


Mucoid extracellular matrix accumulation

An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.). [PMID:27031798]


Increased circulating band form neutrophils

An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2. [PMID:25887201]


Male urethral meatus stenosis
Meatal stenosis

An abnormal narrowing of the urethral opening (meatus) of the penis. [PMID:28537045]


Swelling around the eyes
Periorbital fullness
Puffy eyes
Fullness around the eyes
Periorbital puffiness
Periorbital swelling

Increase in periorbital soft tissue. [HPO:sdoelken]


Red scaly skin caused by inflammatory skin disease


Decreased lysosomal acid glucosylceramidase activity

Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose. []


Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). [HPO:probinson, PMID:21937853]


Abnormal circulating purine concentration

Any deviation from the normal concentration of a purine in the blood circulation. []


Abnormal circulating pyrimidine concentration

Any deviation from the normal concentration of a pyrimidine in the blood circulation. [HPO:probinson]


Abnormal circulating carboxylic acid concentration

Any deviation from the normal concentration of a carboxylic acid in the blood circulation. [HPO:gcarletti]


Abnormal circulating leucine concentration

Any deviation from the normal circulation of leucine in the blood circulation. [HPO:probinson]


Abnormal circulating branched chain amino acid concentration

Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. [HPO:probinson]


Abnormal circulating glycine concentration

Any deviation from the normal concentration of glycine in the blood circulation. [HPO:gcarletti]


Abnormal circulating aspartate family amino acid concentration

Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. [HPO:probinson]


Abnormal circulating glutamine family amino acid concentration

Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation. [HPO:probinson]


Abnormal circulating glutamine concentration

Any deviation from the normal concentration of glutamine in the blood circulation. [HPO:probinson]


Abnormal circulating proline concentration

Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation. [HPO:gcarletti]


Abnormal circulating isoleucine concentration

Any deviation from the normal concentration of isoleucine in the blood circulation. [HPO:probinson]


Abnormal circulating tyrosine concentration

Any deviation from the normal concentration of tyrosine in the blood circulation. [HPO:probinson]


Abnormal circulating cysteine concentration

An abnormality of a cysteine metabolic process. [HPO:probinson]


An increased level of xanthine in the blood circulation. [HPO:probinson, PMID:9153281]


Abnormal circulating phytanic acid level

Abnormal circulating phytanic acid concentration

Any deviation from the normal concentration of phytanic acid in the blood circulation. [HPO:probinson]


Abnormal circulating carnitine concentration

Any deviation from the normal concentration of carnitine in the blood circulation. [HPO:gcarletti]


An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. [HPO:probinson, PMID:28691037]


Abnormal circulating dicarboxylic acid concentration

Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. [HPO:probinson]


Abnormal circulating monocarboxylic acid cocentration

Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation. [HPO:gcarletti]


Abnormal circulating polysaccharide concentration

A deviation from the normal concentration of a polysaccharide in the blood circulation. [HPO:probinson]


Abnormal circulating carbohydrate concentration

A deviation from the normal concentration of a carbohydrate in the blood circulation. [HPO:probinson]


Abnormal circulating unsaturated fatty acid concentration

A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation. [HPO:probinson]


Abnormal circulating prostaglandin circulation

Any deviation from the normal concentration of a prostaglandin in the blood circulation. [HPO:probinson]


A reduced concentration of vitamin K. []


Abnormal circulating citrulline concentration

Any deviation from the normal concentration of citrulline in the blood circulation. [HPO:probinson]


Abnormal circulating esterified carnitine concentration

Abnormal circulating acetylcarnitine concentration

Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. [HPO:probinson, PMID:18281923, PMID:23258903, PMID:6348429]


Abnormal circulating serine concentration

Any deviation from the normal concentration of serine in the blood circulation. [HPO:probinson]


The presence of leuucine crystals in the urine. [PMID:8671802]


An elevated level of carnitine in the urine. [PMID:11196742, UCDenver:tjcallahan]


An increased level of alanine in the urine. [UCDenver:tjcallahan]


An increased level of beta-alanine in the urine. []


An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens. []


Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. [PMID:24722620]


Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. [PMID:29152266]


Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise. [PMID:25285130]


Infection with live attenuated rotavirus vaccine following vaccination. [PMID:21477676]


Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ. []


Prolonged need of intravenous antibiotic therapy

Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time. []


Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections. []


An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines. [PMID:30515161]


An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals. [PMID:25567225]


An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent. []


An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent. []


Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). [PMID:25762774]


An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth). [PMID:18382743]


An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite. [PMID:16148530]


Abnormal CD4+CD25+ regulatory T cell proportion

A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. [PMID:19751267]


Elevated proportion of CD4+CD25+ regulatory T cells

Increased proportion of CD4+CD25+ Treg cells

Increased proportion of CD4+CD25+ regulatory T cells

An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. []


Reduced proportion of CD4+CD25+ regulatory T cells

Decreased proportion of CD4+CD25+ Treg cells

Decreased proportion of CD4+CD25+ regulatory T cells

An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. []


Persistent human papillomavirus infection

Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. [PMID:24643184, PMID:26239127]


An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. []


An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. []


An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. []


Abnormal proportion of central memory CD4+, alpha-beta T cells

Abnormal proportion of CD4+ central memory cells

An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. []


Abnormal proportion of CD4-positive effector memory cells

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

Abnormal proportion of CD4+ effector memory cells

An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:22343568]


Decreased proportion of effector memory CD4-positive, alpha-beta T cells

Decreased proportion of CD4-positive effector memory T cells

Decreased proportion of CD4+ effector memory T cells

Reduced proportion of CD4+ effector memory T cells

An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [PMID:22343568]


Increased proportion of CD4-positive effector memory T cells

Increased proportion of CD4+ effector memory T cells

Increased proportion of effector CD4-positive, alpha-beta T cells

Elevated proportion of CD4+ effector memory T cells

An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype. []


An abnormally high concentration of oleic acid (oleate) in the blood circulation. [PMID:18772370, UCDenver:tjcallahan]


Increased circulating octadecanoate level

An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). []


Increased circulating myristoleate level

An abnormally high concentration of myristoleate in the blood circulation. []


Increased amount of alpha-aminobutyric acid in the urine. [UCDenver:tjcallahan]


Reduced reactive oxygen species production in neutrophils


A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. []


A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. []


An increased level of N-butyrylglycine in the urine. [UCDenver:tjcallahan]


An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection. []


An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium. []


Elevated circulating glycolate concentration

An abnormally increased concentration of glycolate in the blood circulation. [OHSU:jpgourdine, PMID:2002628]


Abnormal circulating thromboxane concentration

Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. [HPO:probinson]


Reduced circulating leukotriene C4 concentration

An abnormally decreased concentration of leukotriene C4 in the blood circulation. [PMID:9820300]


Moderate constriction of peripheral visual field

Peripheral visual field constriction with 20-49 degrees binocular visual field preserved. []


Aplasia, that is failure to develop, of the fallopian tube. []


Fusion of the pancreatic tail and spleen. [ORCID:0000-0001-5208-3432, PMID:18398855]


Abnormal male urethral meatus morphology


A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head). [PMID:8267010]


Intralamellar mucoid extracellular matrix accumulation

A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units. [PMID:27031798]


Translamellar mucoid extracellular matrix accumulation

A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees. [PMID:27031798]


Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers. [PMID:27031798]


A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers. [PMID:27031798]


Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers. [PMID:27031798]


A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain. [PMID:27031798]


Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers. [PMID:27031798]


Aortic smooth muscle cell disorganisation

Aortic smooth muscle cell disorganization

Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells. [PMID:27031798]


An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units). [PMID:27031798]


A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units. [PMID:27031798]


A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units. [PMID:27031798]


Increased serum surfactant protein level

Increased circulating surfactant protein level

An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis. [PMID:28591049]


A deviation from the normal range of manganese in the blood circulation. []


An elevation above the normal concentration of manganese in the blood. [PMID:29382362]


A reduction below the normal concentration of manganese in the blood. []


The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976). [PMID:27833976]


The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. [PMID:7299406]


A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. [PMID:22052638]


An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade. [UManchester:psergouniotis]


A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss. [UManchester:psergouniotis]


Moderate reduction in contrast sensitivity

A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss. [UManchester:psergouniotis]


A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss. [UManchester:psergouniotis]


Abnormal Vistech contrast sensitivity test

An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test. [PMID:1911660]


Abnormal Pelli Robson contrast sensitivity chart test

An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast. [PMID:16723494, UManchester:psergouniotis]


A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected. [ClinGen:courtneythaxton, ClinGen:erinriggs, ClinGen:jennygoldstein, ClinGen:jimmyzqhen, ClinGen:marinadistefano, ClinGen:mattwright, ClinGen:scottgoehringer, ClinGen:tristannelson]


Horizontal 10-40 degree excursions from fixation and back again. [ISBN:978-0198804550, UManchester:psergouniotis]


Abnormal peripheral nervous system physiology

Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. []


A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). []


Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590). []


Abnormal proportion of non-class-switched memory B cells

Abnormal proportion of unswitched memory B cells

A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells. [PMID:28882820]


Elevated proportion of unswitched memory B cells

Increased proportion of non-class-switched memory B cells

Increased proportion of unswitched memory B cells

An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells. []


Decreased proportion of non-class-switched memory B cells

Reduced proportion of unswitched memory B cells

Decreased proportion of unswitched memory B cells

A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells. []


A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination. [PMID:22566959]


An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells. []


A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells. []


Mycobacterium abscessus abscessus infection

Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections. [PMID:26295364]


A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. [PMID:17910333]


Transient decreased circulating total IgG

A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. []


A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. []


A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation. []


A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation. []


A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation. [PMID:26929632]


Decreased natural antibody to blood group agents

Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). [PMID:25309532]


Decreased specific antibody response to vaccination

A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]


Wasting of the sural nerve, a sensory nerve in the calf region of the leg. []


Excruciating burning pain in the rectal area that may be triggered by defecation. [PMID:29650526]


Recurrent episodes of marked eosinophilia that resolve spontaneously. [PMID:25527564]


An unusual infection classified by the affected body part. []


A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection. []


An elevated circulating concentration of folic acid, which is also known as vitamin B9. []


An infection of the small intestine (enteritis) by clostridium difficile. []


A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. []


An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. [PMID:21748081, PMID:23248376]


A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan. [PMID:26312141]


This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign. [PMID:26312141]


The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376). [PMID:18195376]


This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging. [PMID:18195376]


An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space. [PMID:18195376, PMID:1994409]


Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). [PMID:18195376]


A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001). [PMID:1764353, PMID:24285001]


An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode. []


Abnormal circulating metabolite concentration

An abnormal level of an analyte measured in the blood. []


Anomalous hepatic venous drainage into the left atrium

An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium. [PMID:12556263, PMID:16122505, PMID:20552624]


An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response. [PMID:8450264]


An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood. [PMID:8450264]


An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood. []


The presense of molluscum contagiosum lesions across multiple areas of the body. [PMID:21894250]


Cellular hypersensitivity to mitomycin C

An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. [ORCID:0000-0001-5208-3432, PMID:9650445]


Cellular hypersensitivity to diepoxybutane

An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. [ORCID:0000-0001-5208-3432, PMID:14679584]


Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement. [PMID:26488288]


Decreased low-density lipoprotein particle size

An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation. [ORCID:0000-0001-5356-4174, PMID:10417486, PMID:9973300]


Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart. []


Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram. [PMID:27012403]


Abnormal depth of the S wave in lead V5 of the electrocardiogram. [PMID:29279530]


Chronic active Epstein-Barr virus infection

Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed. []


An increased circulation of galectin-3 in the blood circulation. [PMID:24065222]


Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine

Increased urinary type 1 collagen N-terminal telopeptide level

An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. [PMID:30572827]


Abnormal circulating free T3 concentration

Abnormal circulating free triiodotyronine concentration

A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. []


Decreased circulating free triiodothyronine

A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. []


An increased number of epithelial cells per high-power field in urinanalysis. []


Increased urinary squamous epithelial cell count

An increased number of squamous epithelial cells per high-power field in urinanalysis. [PMID:26782662]


Increased urinary renal tubular epithelial cell count

An increased number of renal tubular epithelial cells per high-power field in urinanalysis. []


Increased urinary transitional epithelial cell count

An increased number of transitional epithelial cells per high-power field in urinanalysis. []


Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. [PMID:29730845]


Lymphocytic infiltration of the colorectal mucosa

Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. [PMID:9824342]


A skin nodule that is unusually hard (indurated). [PMID:16252032, PMID:23006954]


Reduced proportion of CD4-positive cells

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

Decreased proportion of CD4-positive T cells

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


Elevated proportion of CD4-positive T cells

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

Increased proportion of CD4-positive T cells

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


Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma. []


The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area. [PMID:25654060, PMID:9420892]


The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification. [NCIT:C96470, PMID:27540339]


Any structural anomaly of the sebaceous glands. [PMID:17975220]


Perinuclear antineutrophil antibody positivity

The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. [ORCID:0000-0002-7440-8864, PMID:24854381, PMID:27481040, PMID:28661185]


Anti-neutrophil cytoplasmic antibody positivity

Cytoplasmic antineutrophil antibody positivity

The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. [ORCID:0000-0002-7440-8864, PMID:14646155, PMID:24854381, PMID:27481040, PMID:28661185]


Increased circulating creatine kinase MB isoform

An increased concentration of the MB isoform of creatine kinase in the blood circulation. [PMID:21448658]


Increased circulating creatine kinase BB isoform

An increased concentration of the BB isoform of creatine kinase in the blood circulation. [PMID:21448658]


Increased circulating creatine kinase MM isoform

An increased concentration of the MM isoform of creatine kinase in the blood circulation. [PMID:21448658]


Increased circulating immature neutrophil count

An abnormally increased number of immature neutrophils in the peripheral blood circulation. [PMID:25887201]


An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1. [PMID:25887201]


Increased circulating metamyelocyte count

An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1. [PMID:25887201]


An increased concentration of E selectin in the blood circulation. [PMID:12591072]


Abnormal tissue metabolite concentration

Any deviation from the normal concentration of a metabolite in a tissue. []


An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. []


Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation. [PMID:28130404]


Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host. []


An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system. []


The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. [PMID:25403034]


An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system. []


Nontuberculous mycobacterial pulmonary infection

An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. [PMID:24624285, PMID:7472715]


Presence of anti-N-methyl-D-aspartate Receptor antibody in blood

Presence of anti-NMDAR antibody in blood

The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. [PMID:24729779]


Cerebrospinal fluid autoimmune antibody positivity

The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues. []


Presence of anti-NMDAR antibody in cerebrospinal fluid

Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF

CSF anti-NMDA receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. [PMID:29651625]


This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor. [PMID:19881070]


A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common. [PMID:19881070]


Elevated urinary N-acetylaspartic acid level

Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. [PMID:8412017]


Increased circulating N-acetyl-L-aspartic acid level

Increased circulating N-acetyl aspartic acid level

Increased circulating N-acetyl aspartate level

Increased circulating N-acetylaspartate level

Increased circulating N-Acetylaspartic acid concentration

An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation. [PMID:8412017]


Increased N-acetyl aspartic acid levels in CSF

Increased N-acetyl-L-aspartic acid levels in CSF

Increased N-acetylaspartate levels in CSF

Increased N-acetyl aspartate levels in CSF

Increased CSF N-acetylaspartic acid concentration

An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). [PMID:8412017]


Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062. [PMID:26769062]


An increase in the level of 2-hydroxyglutaric acid in the urine. []


Disseminated nontuberculous mycobacterial infection

An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease. []


Ultra-low vision with retained motion projection

Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). [UManchester:psergouniotis]


Ultra-low vision with retained light projection

Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus. [UManchester:psergouniotis]


Ultra-low vision with retained light perception

Ultra-low vision but with retained ability to perceive the difference between light and dark. [UManchester:psergouniotis]


Ultra-low vision with no light perception

Ultra-low vision with complete lack of light and form perception. [UManchester:psergouniotis]


An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains. [PMID:15663032]


Oligoclonal elevation of circulating IgG

An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []


An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []


A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain. []


A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain. [PMID:10926917]


A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain. []


A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain. []


Monoclonal elevation of IgG lambda chain

A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain. []


An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses. [PMID:25368619]


An abnormally increased concentration of the IgG3 subtype in the blood circulation. [PMID:25368619, UCDenver:tjcallahan]


An abnormally increased concentration of the IgG1 subtype in the blood circulation. [PMID:25368619, UCDenver:tjcallahan]


An abnormally increased concentration of the IgG2 subtype in the blood circulation. [PMID:25368619, UCDenver:tjcallahan]


An abnormally increased concentration of the IgG4 subtype in the blood circulation. [PMID:25368619, UCDenver:tjcallahan]


The presence of free monoclonal kappa immunoglobulin light chains in the urine. []


The presence of free monoclonal lambda immunoglobulin light chains in the urine. []


Any deviation from the normal concentration of mannose-binding protein in the blood circulation. []


An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation. [OHSU:jpgourdine, PMID:25783214]


An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation. [OHSU:jpgourdine, PMID:25783214]


Increased circulating procalcitonin level

Increased circulating procalcitonin concentration

An elevated concentration of procalcitonin in the blood circulation. [PMID:28794881, PMID:2933297, UCDenver:tjcallahan]


Any deviation from the normal cell count per volume of granulocytes in the blood circulation. []


An abnormally elevated concentration of globulins in the blood. [UCDenver:tjcallahan]


An abnormally reduced concentration of globulins in the blood. []


Excessive, increased hair growth located in the region of the forehead and temple. []


An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple. []


The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape. []


Episodic fever that recurs at irregular intervals. []


Increased urinary 11-deoxycortisol level

An abnormally elevated concentration of 11-deoxycortisol in the urine. [OHSU:jpgourdine, PMID:10689646]


Increased urinary 11-deoxycorticosterone level

An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. [OHSU:jpgourdine, PMID:10689646]


Increased urinary 11-deoxytetrahydrocorticosterone level

An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine. [OHSU:jpgourdine, PMID:10689646]


Oligoclonal elevation of circulating IgM

An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase. []


A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis. []


Oligoclonal elevation of circulating IgA

An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []


An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []


Increased circulating specific IgE antibody


An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []


Oligoclonal elevation of circulating IgE

An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. []


A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis. []


Reduced forced expiratory volume in one second

An abnormal reduction in the amount of air a person can forcefully expel in one second. []


An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation. []


A increased concentration of serine in the urine. [UCDenver:tjcallahan]


Increased level of phenylalanine in urine. [PMID:18566668, UCDenver:tjcallahan]


Increased level of leucine in urine. [UCDenver:tjcallahan]


A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways. [PMID:28005993, UCDenver:tjcallahan]


Decreased pre bronchodilator forced vital capacity

Decreased prebronchodilator forced vital capacity

Decreased pre-bronchodilator forced vital capacity

An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication. [PMID:24695507, UCDenver:tjcallahan]


Decreased postbronchodilator forced vital capacity

Decreased post bronchodilator forced vital capacity

Decreased post-bronchodilator forced vital capacity

An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication. [PMID:24695507, UCDenver:tjcallahan]


Decreased post bronchodilator forced expiratory volume in one second

Decreased postbronchodilator forced expiratory volume in one second

Decreased post-bronchodilator forced expiratory volume in one second

An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication. []


A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. [PMID:24695507, UCDenver:tjcallahan]


Decreased pre bronchodilator forced expiratory flow 25-75%

Decreased prebronchodilator forced expiratory flow 25-75%

Decreased pre-bronchodilator forced expiratory flow 25-75%

A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication. [PMID:24695507, UCDenver:tjcallahan]


Decreased postbronchodilator forced expiratory flow 25-75%

Decreased post bronchodilator forced expiratory flow 25-75%

Decreased post-bronchodilator forced expiratory flow 25-75%

A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication. []


Increased circulating corticosterone level

An abnormally elevated concentration of corticosterone in the blood. [UCDenver:tjcallahan]


Decreased circulating corticosterone level

An abnormally reduced concentration of corticosterone in the blood. []


Applied to a sign or symptom that is worsened by ingestion of aspirin. []


A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. [PMID:28134589]


Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful. []


An increased concentration of isoleucine in the urine. [UCDenver:tjcallahan]


Increased peripheral myeloblast count
Elevated circulating blasts
Elevated blast count

An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications. []


Presence of the Duffy Fya antigen. [PMID:19480920]


Presence of the Duffy Fyb antigen. [PMID:19480920]


Anti-beta 2 glycoprotein I antibody positivity

Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS). [PMID:28105326]


Increased urinary alpha-1-acid glycoprotein

An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism. [PMID:25711902]


Immediate-type hypersensitivity drug reaction

Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement. [PMID:24286446]


Abnormal circulating transferrin concentration

Any deviation from the normal concentration of transferrin in the blood circulation. []


Elevated circulating transferrin concentration

An abnormally increased concentration of transferrin in the blood circulation. [PMID:19787826]


Reduced circulating transferrin concentration

An abnormally decreased concentration of transferrin in the blood circulation. []


Heterotopia that forms a continuous wavy line along the ventricular wall. [COST:neuromig, PMID:22315185]


Nodular subcortical heterotopia in peritrigonal regions

Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei. [COST:neuromig, PMID:23246003, PMID:29654772]


Diffuse ribbon-like subcortical heterotopia

Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex. [COST:neuromig, PMID:24859200]


Mesial parasagittal subcortical heterotopia

Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia. [COST:neuromig, PMID:22578326]


Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia. [COST:neuromig, PMID:22427329]


Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma. [COST:neuromig, PMID:22427329]


An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. [COST:neuromig, PMID:26130693, PMID:26564436, PMID:32895508]


An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex. [COST:neuromig]


An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria. [COST:neuromig]


A increased concentration of aspartic acid in the urine. [PMID:21123949, UCDenver:tjcallahan]


Increased urine asparagine level
Increased level of asparagine in urine

An increased concentration of asparagine in the urine. [UCDenver:tjcallahan]


Increased level of phosphoserine in urine

An increased level of phosphoserine in the urine. [PMID:7688003, UCDenver:tjcallahan]


A type of perisylvian polymicrogyria that largely affects one side of the brain. [COST:neuromig, PMID:20301504]


Bilateral generalised polymicrogyria
Bilateral generalized polymicrogyria

Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. [COST:neuromig, PMID:20301504]


Subcortical band heterotopia posterior predominant

Posterior predominant subcortical band heterotopia

Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. [COST:neuromig]


Subcortical band heterotopia anterior predominant

Anterior predominant subcortical band heterotopia

Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes. [COST:neuromig]


Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain. [COST:neuromig]


Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex. [COST:neuromig, PMID:20301504, PMID:21127420]


Circumferential fibrosis in the interstitium surrounding Bowman's capsule [PMID:21204717, PMID:32866505]


An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm). [PMID:17291473]


Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. [PMID:17291473]


A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. [PMID:17291473]


Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm. [PMID:17291473]


A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. [PMID:17291473]


An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. [PMID:17291473]


Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. [PMID:17291473]


Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. [PMID:17291473]


Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. [PMID:17291473]


An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. [PMID:17291473]


A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. [PMID:17291473]


An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. [PMID:17291473]


A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. [PMID:17291473]


An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. [PMID:17291473]


A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. [PMID:17291473]


Any deviation from the normal concentration of C-reactive protein in the blood circulation. []


An abnormal decrease of the C-reactive protein level in serum. [PMID:17852082, UCDenver:tjcallahan]


An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen. [PMID:30408667, PMID:8077583]


The affected individual has received an organ transplant previous to the current medical encounter. []


Abnormal dermoepidermal hemidesmosome morphology

An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. [PMID:25487405, PMID:26017636]


Detection of arsenic in the blood circulation. []


Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented. [PMID:24034073, PMID:26538887]


Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions. [PMID:24034073]


Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal. []


Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry. [PMID:20142805]


A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. [COST:neuromig]


Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity. [COST:neuromig, PMID:28440899]


Abnormal phosphoribosylpyrophosphate synthetase level

Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. [PMID:4200723]


Decreased phosphoribosylpyrophosphate synthetase level

Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. [PMID:17701900, PMID:20301731]


An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation. [PMID:29167646]


A reduction below the normal concentration of fibronectin the the blood circulation. [PMID:27185500]


Olfactory bulb aplasia
Aplastic olfactory bulb

Lack of formation (congenital absence) of the olfactory bulb. [ORCID:0000-0001-5208-3432, PMID:27863011]


Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies. []


Anti-asialoglycoprotein receptor antibody positivity

Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation. [PMID:26000135]


Polymicrogyria affecting one or multiple small areas of the cerebral cortex. [COST:neuromig, PMID:20198472, PMID:22427329]


An abnormal concentration of urobilinogen in the urine. []


An abnormal concentration of vitamin B6 in the blood circulation. []


An abnormally increased concentration of vitamin B6 in the blood circulation. []


Protrusion of the arachnoid and dura through spinal foramina. [PMID:24311540]


It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. [PMID:27545678]


Abnormal pituitary glycoprotein hormone alpha subunit level

Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). []


Decreased pituitary glycoprotein polypeptide alpha subunit level

Decreased pituitary glycoprotein alpha subunit level

Decreased pituitary glycoprotein hormone alpha subunit level

An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). []


An elevated concentration of sodium in feces. [PMID:26358773]


Abnormal concentration of feces as assessed by the total number of solute particles per kilogram. []


Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram. []


Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram. []


Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline. []


Abnormally low fecal pH, i.e., abnormal acidity of feces. []


Increased circulating argininosuccinic acid

An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation. [PMID:22241104, UCDenver:tjcallahan]


Anti-myelin oligodendrocyte glycoprotein antibody positivity

Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein. [OHSU:jpgourdine, PMID:28533781]


A deviation from the normal proportion of terminal to vellus hairs. [PMID:12894995]


An increased proportion of terminal hairs compared to vellus hairs. [PMID:23044568]


A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. [PMID:23044568]


The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. [PMID:9665278]


Smoking or tobacco use exacerbates symptoms

Applied to a sign or symptom that is worsened by smoking tobacco products. []


Applied to a sign or symptom that is worsened by taking contraceptive medication. []


Applied to a sign or symptom that is worsened by taking barbituates. []


Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol). []


Fasciculations affecting the tongue muscle and the musculature of the chin. []


Habitual insertion of foreign bodies into bodily orifices. [PMID:22690353]


The position of the umbilicus (belly button) is abnormally high (superior). []


Lacrimal punctum, duplication
Double lacrimal puncta

A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face. [PMID:19875171]


Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails. [PMID:20092423]


Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals. [PMID:5614071]


Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw. []


Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. [PMID:8132119]


Immunosupressive therapy improves condition

Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication. []


Aggravated by acetylcholinesterase inhibitor

Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon). []


Ameliorated by acetylcholinesterase inhibitor

Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon. []


The position of the umbilicus (belly button) is abnormally low (inferior). []


An increased amount of 4-hydroxybutyric acid in the urine. []


Decreased succinic semialdehyde dehydrogenase level

Reduced level of succinic semialdehyde dehydrogenase (SSADH). [PMID:25485164]


Elevated CSF gamma-aminobutyric acid concentration


Elevated CSF gamma-hydroxybutyric acid
Elevated CSF GHB levels

Elevated CSF 4-hydroxybutyric acid concentration

Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). [PMID:25485164]


Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate). []


Applies to an abnormality that is situated in the neck. []


An abnormally elevated number of lymph nodes in an anatomical region. [PMID:20301630]


Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint. []


Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed). []


Applied to a sign or symptom that is worsened by being pregnant. []


Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. [PMID:23949189, PMID:29970776]


Immunoglobulin E-mediated cow milk allergy


Abnormal Ca2+ PO4 regulating hormone level

Abnormal Ca-PHOS regulating hormone level

Abnormal calcium-phosphate regulating hormone level

Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. []


Detection of norcotinine, a metabolite of nicotine, in urine. []


An abnormal deviation from normal levels of IgA immunoglobulin in blood. []


An abnormal deviation from normal levels of IgE immunoglobulin in blood. []


An abnormal deviation from normal levels of IgG immunoglobulin in blood. []


An abnormal deviation from normal levels of IgM immunoglobulin in blood. []


An abnormal deviation from normal levels of IgD immunoglobulin in blood. []


Increased level of anti-dander IgE antibody

Increased anti-animal dander IgE antibody level

Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats. []


Increased anti-house dust IgE antibody level

Increased level of anti-house dust IgE antibody

Increased anti-house dust mite IgE antibody level

Increased level of IgE antibody against house dust mites, a common allergen. []


Increased anti-galactose-alpha-1, 3 galactose IgE antibody level

Increased anti-alpha-gal IgE antibody level

Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat. [PMID:29986992]


An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection. [PMID:8614468]


Cyclic neutropenia in myeloid maturation arrest in bone marrow

Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. [PMID:23233578]


A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity. [PMID:23953336]


Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan. [PMID:23953336]


An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus. [PMID:27543669]


An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders. [PMID:24050624]


A widely spaced gap between the fourth toe and the fifth (pinky) toe. []


A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. [PMID:26167022]


A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords. [PMID:16866116]


A hemangioma arising from within visceral structures, the internal organs of the body. [https://doi.org/10.1016/j.epsc.2014.06.004]


A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel. [https://orcid.org/0000-0001-5208-3432]


A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip. [http://www.jpss.eu/index.php/current-issue/item/457-forty-four-cases-of-labial-hemangioma-therapeutic-management]


A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions. [PMID:28419860]


A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx. [PMID:26011223, UBERON:0035619]


A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine. [http://ispub.com/IJOS/11/1/8101#]


A spinal cord hemangioma located in the lumbosacral spine region. [PMID:25449217]


Pituitary gland atrophy
Atrophic pituitary

Partial or complete wasting (loss) of the pituitary gland. [DOI:10.1530/endoabs.44.EP82]


Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. [ORCID:0000-0002-0843-4271]


A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. [NCIT:C16284]


Positive blood Tylenol test
Positive blood paracetamol test

Detection of acetaminophen in the blood. []


Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene. [PubChem:18804]


Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium. []


Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia. [PubChem:23897]


A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region. []


Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. []


Detection of norpropoxyphene in urine. []


Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)

Abnormal level of natural antibody to blood group agents

An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). []


Absent natural antibody to blood group agents

Complete or near-complete absence of isohemagglutinins

Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). [PMID:25309532]


Decreased specific antibody response to protein vaccine

A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]


Complete or near-complete absence of specific antibody response to tetanus vaccine

The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. []


Complete or near-complete absence of specific antibody response to hepatitis B vaccine

The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination. []


Partial absence of specific antibody response to tetanus vaccine

A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. []


Partial absence of specific antibody response to hepatitis B vaccine

A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination. []


Decreased specific antibody response to polysaccharide vaccine

A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]


Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine

The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. []


Partial absence of specific antibody response to unconjugated pneumococcus vaccine

A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. []


Decreased specific antibody response to protein-conjugated polysaccharide vaccine

A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]


Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. []


Complete or near-complete absence of specific antibody response to meningococcus vaccine

The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. []


Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. []


Partial absence of specific antibody response to meningococcus vaccine

A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. []


Detection of methadone and its metabolites in the stool. []


Decreased specific antibody response to infection

A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection. []


Abnormality of neutrophil morphology in cerebrospinal fluid

Abnormality of neutrophil morphology in CSF

An abnormal form or size of neutrophils in the cerebrospinal fluid. [https://orcid.org/0000-0002-8169-9049]


Hyposegmentation of neutrophil nuclei in cerebrospinal fluid

Hyposegmentation of neutrophil nuclei in CSF

Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid. [https://orcid.org/0000-0002-8169-9049]


Hypersegmentation of neutrophil nuclei in cerebrospinal fluid

Hypersegmentation of neutrophil nuclei in CSF

An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid. [https://orcid.org/0000-0002-8169-9049]


Abnormal urinary 1-methylhistidine concentration

Abnormal concentration of 1-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049]


Decreased concentration of 1-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049]


Increased concentration of 1-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049]


Abnormal urinary 3-methylhistidine level

Abnormal amount of 3-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:6780020, PMID:6790901]


Increased concentration of 3-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:6780020, PMID:6790901]


Decreased concentration of 3-methylhistidine in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:6790901]


Immunoglobulin E-mediated alpha-gal allergy


Immunoglobulin E-mediated animal protein allergy


Immunoglobulin E-mediated animal dander allergy


Hypersensitivity in form of an adverse immune reaction against bacteria. []


Immunoglobulin E-mediated bacteria allergy


Immunoglobulin E-mediated dust mite allergy

Immunoglobulin E-mediated house dust mite allergy


Immunoglobulin E-mediated feather allergy


Hypersensitivity in form of an adverse immune reaction against dairy. []


Hypersensitivity in form of an adverse immune reaction against gluten. []


Immunoglobulin E-mediated gluten allergy


Immunoglobulin E-mediated meat allergen allergy


Immunoglobulin E-mediated nut food product allergy


Allergy to plant based food allergens
Plant based food allergy

Hypersensitivity in form of an adverse immune reaction against plant based food allergens. []


Immunoglobulin E-mediated plant based food allergen allergy

IgE-mediated plant based food allergen allergy


Immunoglobulin E-mediated seafood allergy


Immunoglobulin E-mediated insect allergy


Immunoglobulin E-mediated parasite allergy


Allergy to plant products
Plant product allergy

Hypersensitivity in form of an adverse immune reaction against plant products. []


Immunoglobulin E-mediated plant product allergy


Immunoglobulin E-mediated insect bite allergy


Abnormal circulating heparan sulphate level

Abnormality of the concentration of heparan sulphate in the blood

Abnormality of the concentration of heparan sulfate in the blood

Abnormal circulating heparan sulfate level

An abnormal level of heparan sulfate in the blood. [https://orcid.org/0000-0001-9969-8610]


Increased blood heparan sulphate concentration

Increased blood heparan sulfate concentration

Increased circulating heparan sulphate level

Increased circulating heparan sulfate level

An abnormal increase in the concentration of heparan sulfate in the blood. [https://orcid.org/0000-0001-9969-8610, PMID:9692391]


Decreased blood heparan sulphate concentration

Decreased blood heparan sulfate concentration

Decreased circulating heparan sulphate level

Decreased circulating heparan sulfate level

An abnormal decrease in the concentration of heparan sulfate in the blood. [https://orcid.org/0000-0001-9969-8610, PMID:23514715]


Presence of terminal O-fucose glycans on properdin

Shortened O-fucosylated glycan on properdin

Decreased length of O-fucosylated glycans present on properdin. [https://orcid.org/0000-0001-9969-8610, PMID:18199743]


Increased polyhexose concentration in urine

An abnormal increase in the concentration of polyhexose in the urine. [https://orcid.org/0000-0001-9969-8610, PMID:23676310]