The most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis. Clinical characteristics are yellowish waxy-crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia. Histological characteristics are the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis.


Diastema between upper incisors
Diastema between upper front teeth

Diastema between maxillary central incisors


Absence of twelve year molar
Missing twelve year molar
Missing second permanent molar


Increased size of permanent upper central incisor

Large permanent maxillary central incisor

Increased size of permanent maxillary central incisor


Missing deciduous mandibular lateral incisor

Missing primary mandibular lateral incisor

Absence of primary mandibular lateral incisor

Absence of deciduous mandibular lateral incisor


Absence of permanent mandibular lateral incisor

Missing permanent mandibular lateral incisor

Absence of adult mandibular lateral incisor


Missing mandibular lateral incisor
Missing lower lateral incisor
Absence of mandibular lateral incisor


Absence or underdevelopment of the nasopharyngeal adenoids. []


Failure of development of facial skeleton


Missing canine
Absence of eye tooth
Missing eye tooth


Missing some primary teeth
Missing some milk teeth
Fewer deciduous teeth than normal
Decreased number of deciduous teeth
Fewer baby teeth than normal
Missing some baby teeth
Decreased number of primary teeth
Decreased number of milk teeth
Fewer primary teeth than normal


Foetal pinky finger curvature
Fetal pinkie finger curvature
Fetal pinky finger curvature
Foetal little finger curvature
Foetal pinkie finger curvature


Hypoplasia of depressor angula oris muscle


Crooked nasal dorsum
Crooked nasal ridge


Midline supernumary tooth
Extra tooth in the midline


Localised gum disease
Localized gum disease


Generalised gum disease
Widespread gum disease


Missing six year molar
Missing first permanent molar
Absence of six year molar


Absence of permanent molar
Missing permanent molar
Missing adult molar


Missing mandibular premolar
Missing lower premolar
Absence of mandibular premolar


Missing upper bicuspid
Absence of maxillary premolar
Absence of upper premolar
Missing upper premolar
Missing maxillary premolar


Missing premolar
Absence of premolar
Missing bicuspid


Missing permanent maxillary lateral incisor

Absence of permanent maxillary lateral incisor


Missing primary maxillary lateral incisor

Absence of primary maxillary lateral incisor

Missing deciduous maxillary lateral incisor

Absence of deciduous maxillary lateral incisor


Absence of permanent mandibular central incisor

Missing permanent mandibular central incisor

Absence of permanent lower central incisor


Missing lower central incisor milk tooth

Missing primary mandibular central incisor

Missing deciduous mandibular central incisor

Absence of primary mandibular central incisor

Absence of deciduous mandibular central incisor


Missing lower front milk tooth
Missing lower front primary tooth


Absence of primary maxillary central incisor

Missing primary maxillary central incisor

Missing deciduous maxillary central incisor

Absence of deciduous maxillary central incisor


Absence of permanent upper central incisor

Missing permanent maxillary central incisor

Absence of permanent maxillary central incisor


Malformation of the temporomandibular joint


Missing upper jaw bones
Absence of upper jaw bones


Decreased length of anterior nasal spine


Delayed maturation of the head of the thigh bone


Unequal size of opening between the eyelids


Decreased size of eyeballs
Decreased size of globes of eyes


Hypotrophic condylar process of mandible


Underdevelopment of condylar neck of mandible


Underdevelopment of condylar head of mandible

Failure of development of the condylar process of mandible


Failure of development of condylar neck of mandible


Failure of development of condylar head of mandible


Absence of the condylar process of mandible


Absence of the condylar neck of mandible


Absence of the condylar head of mandible


Decreased pneumatization of paranasal sinus


Abnormality of the wide portion of the femoral bone


Abnormality of alveolar processes of jaw


Unerupted permanent dentition
Unerupted adult teeth
Unerupted permanent teeth


Flattening of gum ridges
Flattening of alveolar ridges


Missing upper central incisor
Missing maxillary central incisor


Abnormality of colour of front teeth
Discoloured front teeth
Discolored front teeth


Thickening of connective tissue of innermost finger bone


Thick internal surface of the cranial bones

Enlargement of the inner surface of the skull bones


Increased ossification of the internal surface of the cranial bones


Hypertrophy of the internal surface of the cranial bones


Increased bone density in skeletal bones


Curvature of outermost bone of pinkie finger

Curvature of outermost bone of pinky finger

Curvature of outermost bone of little finger


Flat posterior head
Flat back of skull
Flat back of the skull


Increased ossification of facial skeleton


Decreased projection of zygomaticomaxillary bone complex


Small internal carotid artery
Deficiency of internal carotid artery

Decreased size of internal carotid artery


Failure of development of nasal septal cartilage


Hardened artery wall in small cerebral arteries


Overgrowth of craniofacial bones
Excessive growth of craniofacial bones


Hypertrophy of calvarial bones
Excessive growth of calvarial bones
Overgrowth of calvarial bones
Overgrowth of skullcap

Increased ossification of calvarial bones


Thick internal surface of the frontal bone


Overgrowth of the inside of the frontal bone

Enlargement of the inner surface of the frontal bone


Increased ossification of the internal surface of the frontal bone


Hypertrophy of the internal surface of the frontal bone


Curvature of pinky finger
Curvature of pinkie finger


Abnormality of arm long bone growth plate


Irregular maturation of the end part of the long bone in upper arm


Delayed maturation of the end part of the long bone in upper arm


Delayed maturation fo the end part of the upper limb bone


Decreased pneumatization of frontal sinus


Abnormality of ossification of calvarium


Abnormality of bone mineralization of cranium

Abnormality of bone calcification of cranium


Abnormality of bone formation of cranium


Abnormality of bone formation of calvarium


Increased circumference of foramen magnum


Delayed maturation of end part of long bone


Abnormal development of end part of bone


Difficulty making arithmetical calculations


Curvature of the pinkie toe
Curvature of the pinky toe


Small maxillary lateral incisor
Small upper lateral incisor
Decreased size of upper lateral incisor

Decreased size of maxillary lateral incisor


Thinning and bulging of occipital bone of skull


Small tooth
Underdeveloped tooth
Tooth hypotrophy
Decreased size of tooth


Number of teeth decreased by more than six


Hypertrophy of permanent maxillary central incisor


Hyperplasia of permanent maxillary central incisor


Malformation of the nasal alar cartilage


Protruding back of the head
Prominent posterior head


Lingual angioectasias
Spider veins of the tongue


Hypoplasia of tongue frenum
Hypoplasia of tongue frenulum
Hypoplasia of lingual frenum


A neurenteric cyst located within the skull. [UToronto:chum]


Feeding problem necessitating gastrojejunal tube feeding. [PMID:11827911]


Muscle twitches in eyelid
Fasciculation of the eyelid
Eyelid fluttering
Twitching around eyes
Muscle twitches in eye lid

Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. [HPO:probinson]


A malignant epithelial tumor with a glandular organization that originates in the intestines. []


Hyperintensity of MRI T2 signal of the spinal cord

A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. [HPO:probinson]


Decreased size of nasopharyngeal adenoids

An abnormal decrease in the size of nasopharyngeal adenoids. [ORCID:0000-0001-7941-2961]


Absence of the nasopharyngeal adenoids as a developmental defect. [ORCID:0000-0001-5208-3432]


Underdevelopment of the nasopharyngeal adenoids. []


Abnormal size of nasopharyngeal adenoids

A deviation in the size of nasopharyngeal adenoids. [ORCID:0000-0001-7941-2961]


A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand. [HPO:skoehler]


Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin. []


Reduced plasminogen activator inhibitor 1 antigen

Reduced level of plasminogen activator inhibitor 1 antigen. []


Reduced plasminogen activator inhibitor 1 activity

Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. []


Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. []


Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation. []


Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis. []


Increased time to coagulation in the Russell's viper venom assay []


Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. []


Increased platelet agglutination in response to low-dose ristocetin []


Increased ratio of VWF propeptide to VWF antigen

An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA. []


Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1. []


An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response []


Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay. []


Inclusion bodies in leukocytes
Dohle-like leukocyte inclusion bodies

The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes. []


Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours. []


Decreased level of tissue plasminogen activator

The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis []


Decreased level of histidine-rich glycoprotein

Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation []


An abnormality of coagulation related to a decreased concentration of heparin co-factor II []


Decrease in high molecular weight von Willebrand factor Multimers

A decrease in high molecular weight von Willebrand factor multimers. []


Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) []


An increased tendency towards thrombosis in the mother during a pregnancy. [HPO:probinson, PMID:25401392]


A elevation in the rate of apoptosis in lymphocytes. []


A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes. [HPO:probinson, PMID:17562483]


Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection. [HPO:probinson]


Interlobular septal thickening on pulmonary HRCT


Obstructive deficit on pulmonary function testing

Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). [NIHR:ldaugherty, PMID:22347750, PMID:24695507]


Abnormal pulmonary circulation
Abnormality of respiratory circulation

A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. [HPO:probinson]


Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. [NIHR:ldaugherty, PMID:24121092]


ACA positivity
Anti-centromere antibody positivity
Anticentromere antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. [LMU:mgriese, PMID:17444587, PMID:31858335]


An abnormality of the cardiac ventricular function. [NIHR:ldaugherty]


Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. [HPO:probinson]


Abnormality of apophyseal joint
Abnormality of zygapophyseal joint
Abnormality of Z-joint
Abnormality of zygapophysial joint

An anomaly of the small joints located between and behind adjacent vertebrae. [HPO:probinson]


Abnormally increased size of the knee joint. [HPO:probinson]


Abnormal increased size of the elbow joint. [HPO:probinson]


Increased concentration of amyloid in the cerebrospinal fluid (CSF). []


Reduced concentration of amyloid in the cerebrospinal fluid (CSF). []


Abnormal concentration of amyloid in the cerebrospinal fluid (CSF). []


Topoisomerase (DNA) I antibody positivity

Anti-topoisomerase I antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. [LMU:mgriese, PMID:16112028, PMID:31858335]


An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. [HPO:probinson, PMID:12928305]


Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). [HPO:probinson]


An anomaly of venous function. [HPO:probinson]


Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. [HPO:probinson, PMID:12786876, PMID:25587479]


Absent response to a pattern electroretinogram (PERG). [HPO:probinson]


Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. [HPO:probinson]


Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. [HPO:probinson]


Upper eyelid partly covered by skin when eyes are open. []


Lower eyelid partly covered by skin when eyes are open. []


Upslanting nail
Upward angulation of nail

Nails that slope upward at the free edge. [HPO:probinson]


Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. [HPO:probinson]


Orange colored tonsils
Orange discoloured tonsils
Tonsils with orange deposits
Orange coloured tonsils
Orange tonsils

A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. [HPO:probinson, PMID:19470903]


Any functional anomaly of the tongue. []


Any structural anomaly of the tongue. []


The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. [HPO:probinson]


Nails whose growth is quicker than normal. [HPO:probinson]


Absent lunulae
Lunulae absent
Lunula absent

Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. [HPO:probinson]


A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances. [HPO:probinson]


An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. [HPO:probinson]


Abnormality of the bed nucleus of stria terminalis

The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus. [HPO:probinson, PMID:12600711]


Reduced volume of central subdivision of bed nucleus of stria terminalis

A diminished volume of the central part of the bed nucleus of the stria terminalis. [HPO:probinson, PMID:7477289]


An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. [HPO:probinson]


A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion. [HPO:probinson]


An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. [HPO:probinson, PMID:15198367]


Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). [HPO:probinson]


A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. [HPO:probinson]


Abnormal cerumen pigmentation
Abnormal cerumen colour

An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. [HPO:probinson]


Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal. [HPO:probinson]


Thoracic cystic lymphangioma
Intrathoracic cystic hygroma

A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors. [PMID:25821300, UToronto:chum]


Increased serum interleukin-6
Increased serum IL-6

Increased circulating interleukin 6 concentration

An increased concentration of interleukin-6 in the blood circulation. [HPO:probinson, PMID:9883970]


Abnormal serum IL level
Abnormal serum interleukin level

Abnormal circulating interleukin concentration

An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. [HPO:probinson, PMID:28487810]


Increased circulating free fatty acid level

A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. [HPO:probinson]


Abnormality of the protein C anticoagulant pathway

An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. [HPO:probinson, PMID:12970121, PMID:15943976]


Modic type III vertebral endplate changes

An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs. [HPO:probinson, PMID:24162519]


Modic type II vertebral endplate changes

An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow. [HPO:probinson, PMID:24162519]


An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation. [HPO:probinson, PMID:24162519]


An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic. [HPO:probinson, PMID:24162519]


A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. [UToronto:chum]


An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. [HPO:probinson, PMID:25148116]


A tooth abscess that occurs at the tip of the root (apex) of a tooth. []


Reddish, brown opalescent discoloration of teeth in normal light. [PMID:21731282]


A teratoma located in the craniofacial region. [UToronto:chum]


Intrauterine foetal demise of one twin after midgestation

Intrauterine fetal demise of one twin after midgestation

Loss of one twin occurring after midgestation (17 weeks gestation). [HPO:jdavis, PMID:10732306, PMID:2187353, PMID:24361180, PMID:2704493, PMID:9699754]


Grade IV preterm intraventricular haemorrhage

Grade IV preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension. [UToronto:chum]


Grade III preterm intraventricular haemorrhage

Grade III preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles. [UToronto:chum]


Grade II preterm intraventricular haemorrhage

Grade II preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle. [UToronto:chum]


Intraventricular hemorrhage that occurs in a premature infant. [HPO:probinson]


Hyaloid vascular remnant and retrolental mass

A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. [HPO:probinson]


Glial remnants anterior to the optic disc

Persistance of a posterior remnant of the hyaloid artery located at the optic disc. [HPO:probinson]


Right ventricular anomalous muscle bundle

Anomalous muscle bundle of the right ventricle

An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract. [UToronto:chum]


A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass. [HPO:probinson]


A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component. [HPO:probinson]


A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks. [HPO:probinson]


An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst. [HPO:probinson, PMID:2521673, UToronto:chum]


A herniation of meninges through a congenital bone defect in the skull in the parietal region. [HPO:probinson]


A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones. [HPO:probinson]


A neurenteric cyst located in the spine. [UToronto:chum]


Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. [PMID:20981865, UToronto:chum]


Cyst on the surface of the placenta consisting of amnion and chorion. [UToronto:chum]


Pulmonary venous stenosis
Pulmonary venous occlusion

Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. [HPO:probinson, NIHR:ldaugherty, PMID:20456932, PMID:27009171]


Percussion-induced rapid rolling muscle contractions

Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. [HPO:probinson]


Negative nitroblue tetrazolium reduction test

In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria. [HPO:probinson]


Flattening of cranium
Flattening of skull
Rhomboid shaped cranium
Rhomboid shaped skull


A developmental defect resulting in the presence of fewer than the normal number of toes. [HPO:probinson]


Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. [Eurenomics:fschaefer, KPMP:arosenberg, PMID:32866505]


Lipid-laden histiocytes
Presence of foam cells
Foam cells
Foamy histiocytes

The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. [HPO:probinson]


Infantile respiratory distress
Respiratory distress, neonatal
Neonatal respiratory distress

Respiratory difficulty as newborn. [HPO:probinson]


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 valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. [HPO:probinson, PMID:34406727, PMID:3953566]


A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. [PMID:28398539]


Anxiety disorder of persistent and irrational fear of movement following an injury. It is related to perceived disability due to injury and CATASTROPHIZING in fear of (anticipated) PAIN and possibility of REINJURY.


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


Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons. []


Abnormality of enteric neuron morphology


Abnormality of enteric ganglion morphology

An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. [HPO:probinson]


Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). [HPO:sdoelken]


Exaggerated rugosity of the labia majora

Marked rugae formation of the skin of the labia majora. [PMID:23650202]


Anti-liver cytosol antibody-1 positivity

Anti-liver cytosolic antigen type 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. [PMID:7806169]


Liver kidney microsome type 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2). []


A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. [HPO:probinson]


Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast. []


Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand. []


Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen. []


A deviation from the normal amount of time required for food to pass through the intestines. [PMID:22206545]


Insufficient response to short acting pulmonary vasodilator

No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. [NIHR:ldaugherty]


Abnormal response to short acting pulmonary vasodilator

Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg. [NIHR:ldaugherty, PMID:20004088]


Deep cerebral white matter hyperintensities

Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. [PMID:15576652]


Periventricular white matter hyperintensities

Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. [PMID:15576652]


Substantially shortened length of the small intestine as a result of a developmental defect. [PMID:18209785]


The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb). []


Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. []


Abnormal morphology of erythroid progenitor cell

Abnormal form of the progenitor cells committed to the erythroid lineage. []


Abnormality of digestive system morphology

A structural anomaly of the digestive system. []


Abnormality of digestive system physiology

A functional anomaly of the digestive system. []


Abnormality of enteric nervous system morphology

A structural anomaly of nerves of the enteric nervous system. []


Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. [PMID:20223314]


A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. [HPO:probinson]


Elevated prostate-specific antigen level

An increased concentration of prostate specific antigen (PSA) in the circulation. [PMID:26366236]


A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. []


A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. []


Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. [PMID:20847697]


Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. [HPO:probinson]


Partial or complete loss of foveal tissue that was once present. [HPO:probinson]


Protruding upper incisors
Proclination of the upper incisors
Forward directed upper incisors

The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards. []


Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. [UToronto:chum]


An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina. []


Abnormal glomerular capillary morphology

A structural anomaly of the capillary blood vessels in the renal glomerulus. []


Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. [HPO:probinson, PMID:6879730]


Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. [HPO:probinson]


The presence of multiple serrated polyps in the colon and/or rectum. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps.


A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.


An abnormal dark-yellow color of the urine. []


Sudden death in a patient with EPILEPSY associated with SEIZURES and seizure-related symptoms (e.g., APNEA; HYPOXEMIA) without other identifiable accidental causes (e.g., DROWNING; WOUNDS AND INJURIES).


A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors. [PMID:31468724]


An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis. [PMID:35136187]


An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. []


Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement. [PMID:12453260]


Atrophy of the hippocampus
Degeneration of the hippocampus

Partial or complete wasting (loss) of hippocampus tissue that was once present. []


In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. [HPO:probinson]


A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters. []


A decrease in the amount of alveolar bone around the root of a tooth. []


Abnormal intestine morphology
Abnormality of the intestine

An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. [HPO:probinson]


Von Meyenburg complexes
Multiple biliary hamartomas

Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver. [PMID:22110302]


Abnormality of septum of nose
Anomaly of nasal septum
Anomaly of septum of nose
Abnormality of the nasal septum

An abnormality of the nasal septum. [HPO:probinson]


Any abnormality of the eye, including location, spacing, and intraocular abnormalities. [HPO:probinson]


Eyelashes fell out
Loss of eyelashes
Milphosis
Missing eyelashes

This term refers to the loss of eyelashes that were previously present. [HPO:probinson]


An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. [UManchester:psergouniotis]


Progression of anaphylaxis into systemic shock, which is characterized by significant reduction in tissue perfusion which leads to hypoxia and hypotension, and can lead to death if untreated.


Petit mal seizure
Petit mal
Generalised non-motor seizure
Absence seizure
Generalised non-motor (absence) seizure
Absence seizures
Generalized non-motor (absence) seizure
Brief seizures with staring spells

Generalized seizure that manifests in a form of a brief episode of impairment of consciousness with or without accompanying motor phenomena such as clonic-tonic components, automatisms, or autonomic components.


Cerebellar oedema
Oedema of the cerebellum
Edema of the cerebellum

Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. []


Abnormally low levels of thyroid hormones due to a disorder originating within the thyroid gland.


A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. [HPO:probinson]


Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. [HPO:probinson]


Thyroid abnormality
Abnormality of the thyroid gland

An abnormality of the thyroid gland. [HPO:probinson]


Generalised lipodystrophy
Lipodystrophy, generalized
Lipodystrophy, generalised

Almost complete absence of subcutaneous and/or visceral adipose tissue.


A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [PMID:11580774]


Gastro-esophageal reflux
Gastro-oesophageal reflux
Acid reflux

The backward flow of stomach acid contents into the esophagus (the tube that connects the mouth to the stomach).


Chin skin dimple
Chin dimples
Gelasin of chin
Chin dimple
Chin butt
Dimple chin
Indentation of chin

A persistent midline depression of the skin over the fat pad of the chin. [PMID:19125436]


Reduced factor V activity
Reduced coagulation factor V activity

A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. [PMID:27331311]


Class to represent frequency of phenotypic abnormalities within a patient cohort. []


Reduced insulin like growth factor binding protein acid labile subunit level

An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation. []

Reduced insulin like growth factor binding protein acid labile subunit concentration


Myokymia orbicularis
Orbicularis myokymia

Involuntary, fine, continuous, undulating contractions of the eyelid. []


Excessive anterior displacement of the tracheal and/or bronchial membranous wall. [ORCID:0000-0002-4095-8489]


An abnormally high concentration of trypsinogen in the blood circulation. [PMID:27131402]


An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound. []


Rosette-forming glioneuronal tumour
Rosette-forming glioneuronal tumor

A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.


Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta. [HPO:probinson]


Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. [PMID:24849102]


An abnormally reduced amount of adipose tissue in the thoracic cavity. []


Glomerular subendothelial electron-dense deposits

Electron dense deposits at the glomerular basement membrane, [Eurenomics:ewuehl, PMID:20301598, PMID:30085237]


The presence of a localized dilatation or ballooning of a cerebral artery. [HPO:probinson]


Complete heart block with broad QRS complexes

A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex. []


A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. [HPO:probinson]


Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva. [HPO:probinson]


Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. [UBERON_0003707]


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


A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. [HPO:probinson, PMID:7758185]


A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. [HPO:probinson]


The presence of complement 3 deposits in the glomerulus. [Eurenomics:ewuehl]


Dilatation of the fusiform descending thoracic aorta


Dilatation of the saccular descending thoracic aorta


Focal proliferation of glial cells in the hypothalamus. [HPO:probinson, PMID:26530930]


Oedema of the basal ganglia
Edema of the basal ganglia
Basal ganglia oedema

Swelling within the basal ganglia due to the accumulation of fluid. []


Edema of the thalamus
Oedema of the thalamus
Thalamic oedema

Swelling within the thalamus due to the accumulation of fluid. []


A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery. []


Increase in size of one or more mesenteric lymph nodes. []


Abnormal lactate level by magnetic resonance spectroscopy

A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). []


Reduced brain lactate level by magnetic resonance spectroscopy

A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). []


Abnormal brain choline level by magnetic resonance spectroscopy

A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). []


Reduced brain choline level by magnetic resonance spectroscopy

An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). []


Abnormal brain creatine level by magnetic resonance spectroscopy


Elevated brain creatine level by magnetic resonance spectroscopy

An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). []


Reduced brain creatine level by magnetic resonance spectroscopy

A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). [PMID:12557293, PMID:15625559]


Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy

Abnormal brain N-acetyl aspartate level by MRS

A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). []


Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy

Elevated brain N-acetyl aspartate level by MRS

An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). []


Abnormality of olfactory lobe morphology

A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell. []


Partial or complete wasting (loss) of hypothalamus tissue that was once present. []


Multiple abscess lesions in the spleen. []


Solitary splenic abscess
Unilocular splenic abscess

Single (solitary) abscess in the spleen. []


Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. [ORCID:0000-0003-0986-4123]


Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves. []


U wave inversion that is induced by exercise stress testing. [PMID:22665396]


An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. []


Abnormal amplitude of the QRS complex of the electrocardiogram (EKG). []


Abnormal cutaneous elastic fibre morphology

Abnormal cutaneous elastic fiber morphology

Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. [PMID:12082143, PMID:21738362]


Passage of many stools containing blood and mucus. []


Area of skin requiring an increased amount of time to return to its original shape after being stretched. []


Abnormal large intestinal mucosa morphology

A structural anomaly of the mucous lining of the large intestine. []


A retinal exudate in the area surrounding the optic nerve head. []


A subretinal scar with a disc-like shape in the region of the macula. []


Structural abnormality of the hypothalamus related to defective development. []


Structural abnormality of the thalamus related to defective development. []


Abnormality of hippocampus morphology
Abnormal morphology of the hippocampus

Any structural anomaly of the hippocampus, []


Structural abnormality of the hippocampus related to defective development. []


Structural abnormality of the basal ganglia related to defective development. []


A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). [PMID:24050295]


A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. [PMID:22483320, PMID:25864701]


Reduced erythrocyte pyruvate kinase activity

Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. [PMID:7949104]


Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula. []


Flattened rete pegs
Flattened rete ridges

Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance. [PMID:20548894]


An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. [PMID:24346922]


A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. [PMID:19061615]


Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks. []


White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white. []


An abnormally reduced amount of adipose tissue in the abdominal cavity. []


Abnormal small intestinal mucosa morphology

A structural anomaly of the mucous lining of the small intestine. []


Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges. []

Decreased small intestinal mucosa lactase level


Abnormal circulating oestrogen level
Abnormal estrogen level
Abnormal oestrogen level

A deviation from normal concentration of the hormone estrogen in the blood circulation. []


A deviation from normal concentration of estriol in the circulation. []


An elevation above normal limits of estriol concentration in the circulation. []


A reduction below normal limits of estriol in the circulation. []


A deviation from the normal concentration of circulating estrone. []


An elevation above normal limits of the concentration of estrone in the circulation. []


A reduction below normal limits of the concentration of estrone in the circulation. []


Ectopic deposition of calcium salts found in the gingiva. [PMID:25928877]


Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina. []


Beaten metal macular appearance
Beaten-bronze macular sheen
Beaten-bronze macular appearance

A shiny appearance of the macula, which is often called a beaten bronze appearance. []


A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). [PMID:27739528, PMID:7248243]


Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. [PMID:18329691]


Poor visual behaviour for age
Abnormal visual behavior for age
Abnormal visual behaviour for age

Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones. []


Collateral biliary veins
Collateral biliary circulation

Presence of biliary veins that serve as a collateral channel to the systemic circulation []


Abnormality of hepatobiliary system physiology

A functional anomaly of the hepatobiliary system []


Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. [PMID:16770168]


Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. []


Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. []


A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual. []


Temper tantrums that occur more frequently than usual. []


Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes. []


A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. []


Increased number of elastic fibres in the dermis

Increased number of elastic fibers in the dermis

An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. [PMID:25072684]


Clumping of elastic fibres in the dermis

Clumping of elastic fibers in the dermis

Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). [PMID:25072684]


An increase of the diameter of elastic fibers in the dermis. []


Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers. []


Smooth septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa. []


Nodular septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa. []


Irregular septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture. []


A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance. []


Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. []


Increase in thickness of the subpleural interstitium. []


Ground-glass opacification on pulmonary HRCT


Centrilobular groundglass opacification
Centrilobular groundglass opacity

Centrilobular ground-glass opacification on pulmonary HRCT

A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. []


An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. [PMID:22526827]


A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region. []


Primarily generalized tonic-clonic seizures

Generalized tonic-clonic seizure without focal onset

Generalized tonic-clonic seizures without focal onset

Generalized tonic-clonic seizure without partial onset

Primarily generalised tonic-clonic seizures

Primary generalised tonic-clonic seizures

Generalised tonic-clonic seizure without partial onset

Generalised tonic-clonic seizure without focal onset

Bilateral tonic-clonic seizure with generalised onset

Primary generalized tonic-clonic seizures

Generalised tonic-clonic seizures without focal onset

Bilateral tonic-clonic seizure with generalized onset

A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. [PMID:20196795, PMID:28276060, PMID:28276064, PMID:6790275]


Subtentorial periventricular white matter hyperdensity

Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). []


A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present. []


A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp. []


Muscle fibre actin filament accumulation

Muscle fiber actin filament accumulation

Accumulation in muscle cells of filaments composed of actin. []


Abnormal circulating apolipoprotein concentration

A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation. []


Elevated circulating apolipoprotein A-IV concentration

An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II. []


Triggered by breastfeeding
Breastfeeding triggered symptoms

Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant. []


Cold triggered symptoms
Triggered by cold temperature

Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings. []


Triggered by dehydration
Dehydration triggered symptoms

Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water. []


Carbohydrate ingestion triggered symptoms

Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates. []


Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose. []


Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose. []


Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol. []


Fasting triggered symptoms
Fasting triggered attacks
Triggered by fasting

Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting). []


Triggered by ingestion of lactose-containing milk

Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose. []


Heat triggered symptoms
Triggered by heat

Applies to a sign or symptom that is provoked or brought about by exposure to heat. []


Triggered by fever
Febrile illness triggered symptoms

Applies to a sign or symptom that is provoked or brought about by febrile illness. []


Heavy meal triggered symptoms
Triggered by overeating

Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal. []


Triggered by high-fat diet
High-fat diet triggered symptoms

Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids. []


Hyperventilation triggered symptoms
Triggered by hyperventilation

Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing. []


Triggered by immunization
Triggered by vaccination
Triggered by immunisation
Vaccination triggered symptoms

Applies to a sign or symptom that is provoked or brought about by a vaccination. [PMID:26633955]


Triggered by period
Menstruation triggered symptoms
Triggered by monthly period

Applies to a sign or symptom that is provoked or brought about by menstruation in a female. []


Pregnancy triggered symptoms
Triggered by pregnancy

Applies to a sign or symptom that is provoked or brought about by pregnancy in a female. []


Sleep deprivation triggered symptoms
Triggered by sleep deprivation

Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep. []


Triggered by tobacco use
Triggered by smoking
Triggered by cigarette consumption
Smoking triggered symptoms

Applies to a sign or symptom that is provoked or brought about by smoking. []


Triggered by Na ingestion
Triggered by sodium intake
Sodium intake triggered attacks
Triggered by Na+ ingestion
Sodium ingestion triggered symptoms

Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium. []


Sound triggered symptoms
Triggered by sound

Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise. []


Triggered by stress
Stress triggered symptoms

Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension. []


Triggered by excitement
Excitement triggered symptoms

Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled. []


Kinesigenic
Triggered by sudden movement
Sudden movement triggered symptoms

Applies to a sign or symptom that is provoked or brought about by a sudden movement. []


Vestibular stimulation triggered attacks

Vestibular stimulation triggered symptoms

Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair. []


Abnormality of synovial bursa morphology

A structural anomaly of a synovial bursa. []


A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep). [PMID:27647645]


Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female. []


Heat improves condition
Heat improves symptom

Applies to a sign or symptom that is improved or made more bearable by heat (including fever). []


Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar). []


Functional abnormality of the oesophagus

Any physiological abnormality of the esophagus. []


Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. []


Sweating provoked by cold temperature rather than by heat. []


Applied to pain that wakes the affecting individual from sleep. []


Worsened by activity
Aggravated by exertion
Aggravated by exercise
Worse with activity

Applied to a sign or symptom that is aggravated by activity, exertion, or exercise. []


Applies to an abnormality that affects the arms, trunk, head more than the legs. []


Applies to an abnormality that affects the legs more than the arms, trunk, head. []


Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body. [PMID:17061271]


Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution. [PMID:19772560]


Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections. []


Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours). []


Acute appearance of disease manifestations in a period of minutes. []


Acute appearance of disease manifestations in a period of hours. []


Acute appearance of disease manifestations in a period of days. []


An abnormal pupil shape that is elliptical, i.e., egg-like. []


Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma. []


Leakage of dye on fundus fluorescein angiography

Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins. []


Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. [PMID:19254392, PMID:2117353]


Anti-glutamic acid decarboxylase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. [PMID:27356651]


Downgaze paresis
Supranuclear downgaze palsy

A limitation of the ability to direct one's gaze below the horizontal meridian. [PMID:8913186]


Upgaze paresis
Supranuclear upgaze palsy

A limitation of the ability to direct one's gaze above the horizontal meridian. []


An anomaly of the outer shell (cortex) of a foot bone. []


A reduction in the thickness of the outer shell (cortex) of foot bones. [PMID:24055421]


Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion). []


A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. [PMID:23321410, PMID:27354457]


A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. [PMID:23321410, PMID:27354457]


A ring of redness at the limbus of the eye, the border between the cornea and the sclera. []


Prominence of blood vessels of the superficial episcleral tissues. []


Prominence of blood vessels of the deep episcleral tissues. []


Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). [PMID:16177252]


Abnormality of circulating beta2-m level

Abnormality of circulating beta2 microglobulin level

Abnormality of circulating beta-2-microglobulin level

A deviation from the normal concentration of beta-2-microglobulin in the blood. [PMID:16166103]


Elevated circulating beta-2-microglobulin level

Increased circulating beta-2-microglobulin level

Elevated concentration of beta-2-microglobulin in the blood. []


Reduced circulating beta-2-microglobulin level

Decreased circulating beta-2-microglobulin level

Reduced concentration of beta-2-microglobulin in the blood. []


An anomaly of the margin of the cornea overlapped by the sclera. []


Swelling of the margin of the cornea overlapped by the sclera. []


Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein. [PMID:26278858]


A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers. []


Autosomal dominant germline de novo mutation

Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation. []


Anti-multiple nuclear dots antibody positivity

A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. [PMID:11882049, PMID:12848948]


An anomaly of cellular morphology or physiology. []


A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. []


Polygonal calices
Polygonal-shaped calices

An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). []


Increased number of calices of the kidney. [PMID:19002724]


Abnormality of medullary pyramid morphology

A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. []


Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. [PMID:16293636]


Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. [PMID:19571790, PMID:32866505]


Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. []


A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone). []


Increased thickness (dimension along the axis of the bone) of the growth plate. []


Abnormal bone tissue formation (ossification) affecting the sacrum. []


Formation of the sacrum bone tissue occurs later than age-adjusted norms. []


Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. [PMID:15961864, PMID:25012363]


The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates. []


Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus. []


An increased concentration of glutamine in the urine. [PMID:11283793]


Triggered by physical exercise
Exertion triggered symptoms

Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise. []


Anti-thyroid peroxidase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. [ORCID:0000-0002-3387-1836, PMID:33144894, PMID:33796145]


Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function. [PMID:17341554]


Diet-resistant subcutaneous adipose tissue

Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. [PMID:22301856]


Diet-resistant subcutaneous adipose tissue below waist

Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. []


Pulmonary interstitiatial HRCT abnormality

Pulmonary interstitial high-resolution computed tomography abnormality

High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. [PMID:23247773]


On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. [PMID:23247773]


Crazy paving pattern on pulmonary HRCT
Crazy paving pattern

The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia. [PMID:18195376, PMID:23247773]


A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. [PMID:23247773]


Reticulonodular pattern on pulmonary HRCT

Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. [PMID:23247773]


On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. [PMID:23247773]


Combined cystic and ground-glass pattern on pulmonary HRCT

Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, [PMID:23247773]


Decreased attenuation pattern on pulmonary HRCT

Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. [PMID:23247773]


Mosaic attenuation pattern on pulmonary HRCT

A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography. [PMID:23247773]


Nodular-perilymphatic pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution. [PMID:23247773]


Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. [PMID:23247773]


Nodular-random pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern. [PMID:23247773]


A habitual positioning of the body with the head and upper back bent forward. []


A deficit in the ability to fixate eye movements in order to stabilize images on the retina [PMID:28242738]


Any anomaly of the structure of the spleen. []


Any anomaly of the function of the spleen. []


A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. [PMID:22022062]


A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa. [PMID:22022062]


A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis. []


Urethra more open or expanded than normal. []


A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. [PMID:23678356]


Any anomaly of the structure of the larynx. []


Any anomaly of the function of the larynx. []


Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. []


Any anomaly of the function of the bronchi. []


A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. []


Decreased lecithin cholesterol acyl transferase level

Reduced level of the enzyme lecithin cholesterol acyl transferase. [PMID:25172171]


A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. [PMID:20351687]


Elevated serum deoxycorticosterone
Elevated serum 21-hydroxyprogesterone

Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. []


Increased size of the head of sperm. [PMID:16500351]


Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C. [PMID:15491963]


Ectopic deposition of calcium salts in the Achilles tendon. []


An abnormality of the function of the cardiac atria. []


A decrease in the volume (size) of the amygdyla. []


Morphological abnormality of the papillary muscles

Any structural anomaly of the papillary muscles of the left ventricle. [PMID:9034636]


Anomalous insertion of papillary muscle directly into anterior mitral leaflet

A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet. [PMID:1884449]


Abnormal location of the insertion of a papillary muscle into the left ventricular wall. []


Anterior displacement of the papillary muscles

Abnormally anterior location of the papillary muscles of the left ventricle. [PMID:7850958]


Apically displaced anterolateral papillary muscle

Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, []


Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. [PMID:19956703]


Abnormal cerebrospinal fluid metabolite concentration

Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. []


Low CSF 5-hydroxyindolacetic acid
Low CSF 5-HIAA
Decreased CSF 5-HIAA

CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. [ORCID:0000-0003-0169-8159, PMID:27388694]


Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. []


Decreased cerebrospinal fluid total protein

CSF total protein level is below the lower limit of normal. [ORCID:0000-0003-0169-8159, PMID:27388694]


An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. []


An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). [ORCID:0000-0003-0169-8159, PMID:20951217]


An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions. []


Increased reactive oxygen species production

An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. [PMID:26950655]


Abnormal circulating beta globulin level

A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood. []


Increased level of beta 2-microglobulins in the urine. []


A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation. [PMID:26822169]


A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching. []


An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. [PMID:25394566]


Abnormal circulating thyroglobulin level

A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. []


Increased circulating thyroglobulin level

An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. []


Any structural anomaly of the bladder. []


A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. [PMID:25772937]


Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. []


Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans [PMID:25017251]


Significant luminal narrowing of a long segment of the descending aorta. [PMID:12368748, PMID:24516866]


Any anomaly of the function of a coronary artery. []


Obesity with a body mass index of 30 to 34.9 kg per square meter. []


Anomalous coronary artery arising from the opposite sinus

Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. [PMID:27358682, PMID:28374180]


Anomalous origin of the circumflex artery from the right sinus of Valsalva

The circumflex coronary artery originates from the right aortic sinus of Valsalva. [PMID:25104986]


Anomalous coronary artery with aortic origin and course between the great arteries

Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, [PMID:24424336]


A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood. []


A papule with the same color as the surrounding skin. [PMID:15686304]


Later than normal development of the breasts. []


A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. [PMID:24605242]


Small hippocampus
Underdeveloped hippocampus


An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion. []


The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males. []


Elongated chordae tendinae of the mitral valve

Abnormal increased in length of the chordae tendinae of the mitral valve. []


Abnormal morphology of the chordae tendinae of the mitral valve

A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. [PMID:23304176]


Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. []


Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips. []


A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. []


A skin lesion with a snake- or serpent-like distribution. []


A lesion of the skin with a ring-like distribution. []


Xanthoma palmare striatum
Xanthoma striatum palmare

The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. []


The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. [PMID:21575077]


With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result. []


Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back. [PMID:11730311]


Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest. [PMID:11730311]


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


Abnormality of intestinal smooth muscle morphology

A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine. []


Segmental additional circular muscle coat

Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. [PMID:18788889, PMID:26078585]


The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process. []


Enteric intraneuronal nuclear inclusion bodies

Aggregates of stainable substances (proteins) in the nuclei of enteric neurons. []


Thick eyelids
Thickened but nonswollen eyelids
Eyelid thickening
Thickened eyelid

An increased thickness of the eyelid not related to acute inflammation. []


Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. [PMID:26543300]


An abnormal accumulation of protein in the glomerulus. []


Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot. []


Abnormality of cardiovascular system electrophysiology

An anomaly of the electrical conduction physiology of the heart. []


Interventricular septum membranous part aneurysm

Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). [PMID:5846101, PMID:6018320]


Aneurysm of the membranous ventricular septum


Aneurysm of the muscular ventricular septum

Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). [PMID:5846101]


Abnormal morphology of the great vessels

A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. []


An abnormality of the structure of the pulmonary artery. []


An abnormality of the function of the pulmonary artery. []


An abnormality of the structure of the pulmonary veins. []


An abnormality of the function of the pulmonary veins. []


An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. []


An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. []


A chronic deviation from normal pressure in the systemic arterial system. []


An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. [PMID:17690130, PMID:18842761, PMID:25691269]


A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. []


Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. [ORCID:0000-0002-2826-3879]


A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. [ORCID:0000-0003-0169-8159, PMID:27388694]


Enlargement of the large blood vessels in the choroid. [PMID:26026923]


An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). [ORCID:0000-0003-0169-8159, PMID:24123328]


A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF. [PMID:27388694]


Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. [PMID:21994886]


Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. [PMID:22333006]


Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. [PMID:21994886]


Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree. []


Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. [PMID:24265565]


A congenital anomaly characterized by the presence of two separate pancreatic ducts. []


Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement). []


Deterioration or loss of the tissues of the saccule of the vestibule. []


A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle. []


Areflexia that is limited to one side of the body. [PMID:6722516]


Orofacial action-specific dystonia induced by speech