A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs.


An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. [HPO:probinson]


A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)


Abnormal conduction in all three divisions of the intraventricular conducting tissue. [DDD:dbrown]


Atherosclerotic changes of aorta
Plaque build-up in aorta artery
Atherosclerosis of the aorta
Aortic atherosclerotic lesion

The presence of atheromas or atherosclerotic plaques in the aorta. [HPO:probinson, PMID:16818829]


An atherosclerotic lesion located in the renal artery. []


Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. [PMID:25537277]


Sudden breakage of an artery leading to leakage of blood from the circulation. [HPO:probinson]


The formation of a blood clot (thrombus) in the portal vein.


Varicosity of veins in the vulval region. [HPO:probinson]


Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)


Glossy appearance of the entire tongue surface. [PMID:19125428]


Narrowing of the anorectum associated with inflammation or scar tissue. [PMID:25109493]


A rupture in the gallbladder wall caused by traumatic or pathologic processes.


A pouch or sac-like protrusion in the bladder wall.


A condition with obliterated endometrial cavity causing secondary AMENORRHEA.


Clitoral enlargement
Prominent clitoris
Enlarged clitoris
Clitoromegaly
Hypertrophic clitoris

Hypertrophy of the clitoris. [HPO:probinson]


Irregular periods
Irregular menses
Menstrual irregularity
Irregular menstruation

Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.


Abnormality of the hair
Hair abnormality

An abnormality of the hair. [HPO:probinson]


Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. [PMID:26841242]


Dislocation of a given joint repeated times. []


Contractures involving the hands
Contractures of the hands

Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. [HPO:sdoelken]


Degenerative disc disease
Degenerative intervertebral disk
Degeneration of intervertebral discs
Intervertebral disc degeneration
Degenerative intervertebral disc

Degenerative changes in the INTERVERTEBRAL DISC due to aging or structural damage, especially to the vertebral end-plates.


Lumbar spinal stenosis
Narrow lumbar spinal canal


A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).


Abnormal positioning in which the elbows are turned out. [HPO:probinson]


A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body. []


Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. [HPO:jmcmurry, PMID:24839413]


Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix. [PMID:24427573]


Mitral stenosis with congenital onset. [DDD:dbrown]


Partial anomalous pulmonary venous connection

A congenital heart disorder in which one or two pulmonary veins are not connected to the left atrium and drain into the right atrium instead. It may lead to arrhythmias and pulmonary hypertension.

Partial anomalous pulmonary venous return


Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both.

A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip.

Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the "palate." With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open.

Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth.

Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life.

Centers for Disease Control and Prevention


Aglossia
Missing tongue
Absence of tongue

Absence of the tongue owing to a developmental abnormality. [HPO:probinson]


A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver.


A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE.


Extra finger
Finger polydactyly
Hand polydactyly
Supernumerary finger

A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. [HPO:probinson]


Duplication of bones of the toes
Polydactyly of feet
Polydactyly of the foot

A kind of polydactyly characterized by the presence of a supernumerary toe or toes. [HPO:probinson]


Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism"." [HPO:sdoelken]


Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism"." [HPO:sdoelken]


An abnormal osseous union (fusion) between the radius and the ulna. [HPO:probinson]


A type of Macrodactyly affecting one or several fingers. [HPO:probinson]


A type of Macrodactyly affecting one or several toes. [HPO:probinson]


A developmental defect characterized by agenesis of one or more vertebral bodies. [PMID:26167231]


A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions.


Inflammation of the umbilical cord stump in newborns.


Blood glucose concentration below the lower limit of established reference ranges in a newborn.


Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through. [PMID:32644551]


Abnormal hypersynchronous electrical activity in the brain of a newborn which may be associated with stereotyped movements or autonomic changes.


Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. []


An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. []


Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area. []


The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. [PMID:21298321]


A partial or complete breakage of the facial bone. []


A partial or complete breakage of the scapula. []


Fractures of any of the bones of the ANKLE.


A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen.


Sunken or indented skin due to damage
Thin, atrophic scars

Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. [HPO:probinson]


Ketonuria
Ketonaciduria
Ketone bodies in urine
Ketoaciduria

The presence of ketone bodies in the urine.


A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.


Oedema of the eyelids
Puffy eyelids
Fullness of eyelids
Edema of the eyelids
Swelling of eyelids
Palpebral edema
Eyelid edema
Puffy lids
Palpebral oedema

Edema in the region of the eyelids. [HPO:probinson]


Ophthalmoplegia externa
External ophthalmoplegia

Paralysis of the external ocular muscles. [HPO:probinson]

Paralysis or weakness of muscles within or surrounding outer part of eye


A sensation of discomfort and tightness while moving a joint. Typically there is decreased joint range of motion. Causes include arthritis, joint overuse, joint injury, and the aging process.


Iron deficiency anaemia
Ferropenic
Iron-deficiency anaemia
Iron-deficiency anemia

Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.


An arthritis affecting five or more separate joints.


An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.


Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.


An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement.


Decreased circulating IgA level
Decreased IgA
Decreased immunoglobulin A
Gamma-A globulin deficiency
IgA deficiency
Low levels of immunoglobulin A

A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.


Acute liver failure
Acute hepatic failure

A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C.


A group of muscle diseases associated with abnormal mitochondria function.


Progressive paralysis or weakness of muscles of eye movement

Chronic progressive external ophthalmoplegia

A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)

Progressive paralysis or weakness of muscles of eye motility


Neurofibromata
multiple neurofibromas
Neurofibromas

A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)


Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality.


Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area.


Increased skin pigmentation
Cutaneous hyperpigmentation
Hyperpigmented lesion
Skin hyperpigmentation
Hyperpigmentation of the skin

Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.


Hypopigmentation
Hypopigmented skin
Patchy lightened skin
Hypopigmentation of the skin

A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.


Hidradenitis suppurativa
Verneuil's disease
Pyoderma fistulans significa
Acne inversa

A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.


Abnormal balloon- or sac-like dilatation in the wall of any one of the iliac arteries including the common, the internal, or the external ILIAC ARTERY.


An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm.


An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.


A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)


A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor.


Callosal agenesis
Agenesis of corpus callosum
Absent corpus callosum
Absence of corpus callosum
Dysplastic or absent corpus callosum
Agenesis of the corpus callosum

Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.


Congenital failure to develop, and absence of, the nipple. []


Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. [HPO:probinson]


Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA).


Fibroadenosis - breast
Fibroadenoma of the breast
Breast fibroadenosis
Fibroadenosis of breast
Breast fibroadenomas

A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.


A hardening of the kidney glomerulus caused by scarring of the blood vessels.


Privacy metadata indicating the level of protection required to safeguard personal and healthcare information, which if disclosed without authorization, would present a moderate risk of harm to an individual's reputation and sense of privacy.
Usage Note:The level of protection afforded moderately confidential information is dictated by privacy policies intended to engender trust in a service provider. May include publicly available information in jurisdictions that restrict uses of that information without the consent of the data subject.
Privacy policies mandating moderate levels of protection, which preempt less protective privacy policies. "Moderate" confidentiality policies differ from and would be preempted by the prevailing privacy policies mandating the normative level of protection for information used in the delivery and management of healthcare.
Confidentiality code total order hierarchy: Moderate (M) is less protective thanV, R, and N*, and subsumes all other protection levels (i.e., *Land *U*).Examples:Includes personal and health information that an individual authorizes to be collected, accessed, used or disclosed to a bank for a health credit card or savings account; to health oversight authorities; to a hospital patient directory; to worker compensation, disability, property and casualty or life insurers; and to personal health record systems, consumer-controlled devices, social media accounts and online Apps; or for marketing purposes


Intensely bad or unpleasant in degree, quality or extent.


A point or area that is approximately central within some larger region or structure.


On or near an edge or constituting an outer boundary; the outer area.


Situated nearest to a point of attachment or origin.


Situated farthest from a point of attachment or origin, as of a limb or bone; or directed away from the midline of the body.


Relating to or located at the tip (an apex).


Situated on or along or in the direction of an axis.


Having a severe and rapid onset of symptoms with short duration.


Straddling the dividing line between two categories.


Usually used to describe a condition that is persistent and long standing.


Widely spread; not localized or confined.


Arising from, pertaining to, or having many locations.


The quality of being free from change or variation or not taking part readily in chemical change.


A disease characteristic falling between acute and chronic, but predominantly acute.


Not permanent; not lasting; lacking continuity or regularity.


myocardial disease characterized by general increase in bulk of the myocardium due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells; involving mainly the interventricular septum, interfering with left ventricular emptying.


A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)


Solitary or multiple, slightly raised pigmented melanocytic lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.


A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)


A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072)


A hemangioma characterized by the presence of epithelioid endothelial cells.

Angiolymphoid hyperplasia with eosinophilia


The presence of multiple meningiomas in the leptomeninges.


A benign or malignant, primary or metastatic epithelial neoplasm affecting the glandular cells.


A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.


A poorly differentiated malignant embryonal neoplasm arising from the pineal region. It usually occurs in children and it is characterized by the presence of small immature neuroepithelial cells. It may follow an aggressive clinical course.


An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. [HPO:probinson]


Inflammation of interstitial lung tissue, usually associated with infection.


Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.


The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.


Increased reticulocyte count
Reticulocytosis
Increased reticulocytes
Increased immature red blood cells

An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA.

Increased number of immature red blood cells


A systemic, large-cell, non-Hodgkin, malignant lymphoma characterized by cells with pleomorphic appearance and expressing the CD30 ANTIGEN. These so-called "hallmark" cells have lobulated and indented nuclei. This lymphoma is often mistaken for metastatic carcinoma and MALIGNANT HISTIOCYTOSIS.


Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.


Teeth with type iii dentinogenesis imperfecta

Teeth with thin dentin and large pulp chambers

A localized arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (Jablonski, Illustrated Dictionary of Dentistry, 1982)


Lymphatic vessel tumor
Lymphatic vessel neoplasm

Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.


A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin.


A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)


Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue.


A liposarcoma containing round mesenchymal cells and a myxoid extracellular matrix in stroma.


A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a long tubular bone in young adults. (From Dorland, 27th ed; Stedman, 25th ed)


A benign central bone tumor, usually of the jaws (especially the mandible), composed of fibrous connective tissue within which bone is formed.


Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue.


A condition characterized by multiple formations of myofibromas (LEIOMYOMA).


A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. "Alveolar" refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)


A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)


A variety of rare sarcoma having a reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. It is a rare tumor, usually occurring between 15 and 35 years of age. It appears in the muscles of the extremities in adults and most commonly in the head and neck regions of children. Though slow-growing, it commonly metastasizes to the lungs, brain, bones, and lymph nodes. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1365)


A malignant neoplasm of the germinal tissue of the GONADS; MEDIASTINUM; or pineal region. Germinomas are uniform in appearance, consisting of large, round cells with vesicular nuclei and clear or finely granular eosinophilic-staining cytoplasm. (Stedman, 265th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1642-3)


A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.


A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059)


A benign neoplasm of the ADRENAL CORTEX. It is characterized by a well-defined nodular lesion, usually less than 2.5 cm. Most adrenocortical adenomas are nonfunctional. The functional ones are yellow and contain LIPIDS. Depending on the cell type or cortical zone involved, they may produce ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE.


An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)


A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)


Adrenocortical carcinoma
Adrenal carcinoma

A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.


A malignant tumor arising from the epithelium of the BILE DUCTS.


Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.


A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)


Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin. (From Dev Biol 1998 Aug 1;200(1):1-5)


Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord.


A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. It is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., SIADH, Cushing Syndrome). It has a high propensity for multiple local recurrences and bony metastases. (From Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33)


A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.


A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)


A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)


A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)


A dull red, firm, dome-shaped hemangioma, sharply demarcated from surrounding skin, usually located on the head and neck, which grows rapidly and generally undergoes regression and involution without scarring. It is caused by proliferation of immature capillary vessels in active stroma, and is usually present at birth or occurs within the first two or three months of life. (Dorland, 27th ed)


A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)


Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.


A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.


A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.


This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. [HPO:probinson]


Postaxial polydactyly
Postaxial hexadactyly

A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. [HPO:probinson]


A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not recognized and treated promptly, it may be lethal.


Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock.


Acidosis resulting from accumulation of ketone bodies. [HPO:probinson]


Abnormally increased pH levels in the blood due to excessive loss of acid and/or accumulation of base.


An increased concentration of xanthine in the urine. [HPO:gcarletti]


Hyperhistidinemia
High blood histidine level

autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction.


An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased concentrations of cystathionine in the plasma and urine.


Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.


Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.


Acquired anemia due to destruction of red blood cells by physical trauma such as FIBRIN strands in the blood vessels, artificial heart valve, AORTIC COARCTATION. I can also be associated with hematologic diseases such as DISSEMINATED INTRAVASCULAR COAGULATION; HEMOLYTIC-UREMIC SYNDROME; and THROMBOTIC THROMBOCYTOPENIC PURPURA.


A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.


Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.


A condition in which neurally mediated syncope occurs due to massage of the carotid body. (ACC-AHA)


An abnormally high blood pH (usually defined as 7.41 or above). [PMID:24381489]


Forceful expulsion of the contents of the stomach through the mouth.


Chaotic atrial tachycardia
Multifocal atrial tachycardia

An electrocardiographic finding of a supraventricular arrhythmia characterized by 3 or more distinct P wave morphologies with an isoelectric baseline, variable PR intervals and no predominant atrial rhythm. The ventricular rate is typically 100-150 beats per minute. (CDISC)


Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions.


Gout affecting the Metatarsophalangeal joint of big toe. [HPO:sdoelken]


Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. [HPO:sdoelken]


A feeling of tension or tightness in one or more muscles.


Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. [HPO:probinson, PMID:23650202]


An abnormality of the creases of the skin of palm of hand. [HPO:probinson]


Urticaria may be caused by cold temperatures. [PMID:11702618]


A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis.


A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.


An unusual congenital abnormality in which the aorta or aortic branches encircle the trachea and esophagus. Signs and symptoms include difficulty swallowing and eating, persistent cough, noisy breathing, and acid reflex.


Complete common AV canal
Complete atrioventricular septal defect
Atrioventricular canal
Complete atrioventricular canal defect

Defects of endocardial cushions resulting in low atrial and high ventricular septal defects. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)


A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome.


Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins. [PMID:26112857]


A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones. [LMU:kknoflach, PMID:18195376, PMID:4014865, PMID:7976869]


Inflammation of oral commisures
Angular stomatitis
Red and sore corners of the mouth
Angular cheilosis
Inflammation of corners of the mouth
Angular cheilitis

Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.


Recurrent cutaneous manifestation of GLUCAGONOMA characterized by necrolytic polycyclic migratory lesions with scaling borders. It is associated with elevated secretion of GLUCAGON by the tumor. Other conditions with elevated serum glucagon levels such as HEPATIC CIRRHOSIS may also result in similar skin lesions, which are referred to as pseudoglucagonoma syndrome.


Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi. [PMID:9195521]


Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. [PMID:12165227, PMID:22375975]


The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). [HPO:probinson]


Introversion of eyelashes
Ingrown eyelashes
Trichiasis

A disease of the eye in which the eyelashes abnormally turn inwards toward the eyeball producing constant irritation caused by motion of the lids.


Poor nail formation
Onychodystrophy
Nail dystrophy

Deformity or discoloration of a fingernail or toenail.


The natural longitudinal (posterodistal) convex arch is not present or is inverted. [PMID:19125433]


Circumscribed depigmentation of the hair of the head or the eyelashes. [HPO:probinson]


Cafe-au-lait macules
Cafe-au-lait spots
Cafe-au-lait macule
Cafe-au-lait spot

Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).


Acanthosis
Acanthotic epidermis
Epidermal acanthosis

Diffuse hypertrophy of the stratum spinosum layer of the epidermis.


Abnormality of cells of the lymphoid lineage

A lymphocyte that may be irregular or not conforming to type.


The presence of erythrocytes with excessive variation in size in the blood.


An increase in the number of abnormally shaped red blood cells.


Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target. [PMID:27372866, PMID:32965812]


Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells. [HPO:probinson, PMID:16739263]


An abnormally low level of uric acid in the blood. [HPO:curators]


Persistent blue colour of hands or feet
Acrocyanosis

Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty.


Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism"." [HPO:curators]


A congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure.


A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major.


A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).


Premature closing of both sides of the coronal sutures.


Short fingers or toes
Brachydactyly syndrome

Congenital anomaly of abnormally short fingers or toes.


Large dolichocephalic skull
Long, narrow head
Dolichocephaly

An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. [HPO:probinson, PMID:19125436]


Agenesis of the diaphragm
Agenesis of diaphragm

Congenital lack, i.e., aplasia of the diaphragm. [HPO:probinson]


Indentation or clefting of the nose
Bifid nose

Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. [PMID:19152422]


A congenital abnormality characterized by the presence of two separate ureters draining a kidney.


Weakness in muscles of upper arms and upper legs

A lack of strength of the proximal muscles. [HPO:probinson]


Gap between large left and right abdominal muscles

A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). [HPO:probinson]


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


The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. [HPO:probinson]

Persistent foramina of the parietal bones


Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]


Accessory renal artery
Double renal artery

An additional renal artery originating from the aorta. Accessory renal arteries are found in 26-30% of humans.


A feeling of general discomfort or uneasiness, an out-of-sorts feeling.


Slower than normal rate of weight increase.


Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. [PMID:17973940]


Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. []


The inability to maintain a comfortable body temperature in warm or hot weather. [HPO:probinson]


Involuntary flexion or extension of the arms and legs. [HPO:probinson]


A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus. [HPO:probinson]


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


The occurrence of a single contraction or a series of contractions of a muscle.


Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. [HPO:probinson]


Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. [PMID:2146943]


A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. []


Finger bends toward pinky
Ulnar deviation of finger

Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. [HPO:probinson, PMID:19125433]


To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. [PMID:27770207]


A pattern of walking found in individuals with chronically-contracted leg muscles in which the affected leg or legs drag in a stiff, semicircular motion during ambulation. This may be seen in patients with cerebral palsy or multiple sclerosis.


A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. []


Nodding movement of the head or body. [HPO:probinson, PMID:4821687]


A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. [HPO:probinson]


Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. [PMID:27770207]


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


Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia. [PMID:12975201]


Shortness of breathing upon physical activity

Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. [PMID:29763022]


An abnormal retention of gas in the lungs during expiration, either as a result of complete or partial airway obstruction or as a result of abnormalities in pulmonary compliance.


Increased respiratory rate or depth of breathing


Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. [HPO:tevangelista]


An anomalous (adventitious) sound produced by the breathing process. [HPO:probinson]


Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy. [PMID:26229557]


A lack of humidification of the nasal mucosa. [LMU:mgriese, PMID:12391797, PMID:20465792]


Weak or absent palpable pulse due to decreased arterial pulse pressure.


Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. [HPO:probinson]


In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse. [PMID:15886379]


A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). []


Fixed splitting of the second heart sound

An auscultated finding in which the semilunar valve closure sounds do not vary with respiration. (ACC-AHA)


Reversed splitting of the second heart sound

An auscultated finding in which the pulmonic valve closure sound occurs prior to the aortic valve closure sound. (ACC-AHA)

Paradoxical splitting of the second heart sound


The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients. []


Heart murmurs which are systolic in timing. They occur between the first and the second HEART SOUNDS, between the closure of MITRAL VALVE and TRICUSPID VALVE and the closure of semilunar aortic and pulmonary valves. Systolic murmurs include ejection murmurs and regurgitant murmurs.


A heart murmur that occurs during the entire systolic interval, from the first to second heart sounds.


A heart murmur that occurs during the middle portion of the ventricular ejection phase.


A heart murmur that occurs during the last half of the ventricular ejection phase. This may or may not extend to the second heart sound.


A heart murmur that occurs between ventricular ejection, while the semilunar valves are closed.


A heart murmur that occurs during the middle portion of the ventricular filling phase.


A heart murmur that occurs throughout both systole and diastole.


A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. [PMID:18122452]


A question about whether an individual feels or has felt tightness in the chest.


A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. [PMID:29262101]


An electrocardiographic finding of the Q axis from -30 to -90 degrees.


An electrocardiographic finding suggesting underlying hypertrophy or dilatation of the right atrium. Electrocardiographic criteria used for the diagnosis of right atrial abnormality may include a peaked p wave greater than 2.5 millimeters in amplitude in the inferior leads.


An electrocardiographic finding suggesting underlying hypertrophy or dilatation of the left atrium. Electrocardiographic criteria used for the diagnosis of left atrial abnormality may include a bifid p wave, a biphasic p wave and/or a p wave duration of greater than 0.12 seconds.


Interruption or disruption of the intake of food/nutrition.


Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. [HPO:probinson]


Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. [HPO:probinson]


A clinical syndrome with intermittent abdominal pain characterized by sudden onset and cessation that is commonly seen in infants. It is usually associated with obstruction of the INTESTINES; of the CYSTIC DUCT; or of the URINARY TRACT.


The location of the pain is in the upper and middle region of the abdomen, located within the sternal angle.


Premature teeth loss
Early tooth loss
Premature loss of teeth
Premature tooth loss

Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. [HPO:ibailleulforestier, PMID:31468724]


Regurgitation of milk through the nose. [DDD:ncarter]


Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines. [HPO:probinson, PMID:22767621]


An decreased amount of bowel sounds. [HPO:probinson]


Painful spasm of the anal sphincter along with an urgent desire to defecate without the significant production of feces; associated with irritable bowel syndrome.


Reduced ability of the liver to perform its functions. [HPO:probinson]


A tremor of the wrist that is observed when the wrist is extended.


An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. [HPO:probinson]


Painful sensation in the bladder region.


Abnormally late or absent menarche in a female with normal secondary sexual characteristics.


The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.


Prolonged/excessive menses and bleeding at irregular intervals. [PMID:22594864]


A kind of breech presentation in which the hips are flexed and the knees are flexed. [HPO:probinson]


A kind of breech presentation in which the hips are flexed and the knees are extended. [HPO:curators]


Restricted range of emotional expressiveness.


A state of feeling very unhappy, uneasy, or dissatisfied. []


Behavioral disturbances
Behavioral abnormality
Behavioural problems
Behavioral problems
Psychiatric disorders
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Behavioural abnormality
Psychiatric disturbances

Troublesome or disruptive behavioral displays.


Repetitive pressing, poking, and/or rubbing in the eyes. [HPO:probinson, PMID:8881355]


Opposing or not responding to instructions or external stimuli. [PMID:28754582, PMID:30262571]


Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails. [PMID:26985115]


Slowness of thought
Mental slowness
Slowed thoughts


Perseverative behavior
Perseverative behaviour

Repeats of words that have been previously mentioned on the same trial.


Perception of sound in the absence of a corresponding stimulus.


Optical perception of an object, person or event in the absence of a corresponding stimulus.


Perception of a smell in the absence of a corresponding stimulus.


Perception of pressure or touch in the absence of a corresponding stimulus.


Fleeting perceptual experiences that occur during the transition from wakefulness to sleep. [PMID:27358492]


Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow CRANIOCEREBRAL TRAUMA; SEIZURES; ANOXIA; and other conditions which adversely affect neural structures associated with memory formation (e.g., the HIPPOCAMPUS; FORNIX (BRAIN); MAMMILLARY BODIES; and ANTERIOR THALAMIC NUCLEI). (From Memory 1997 Jan-Mar;5(1-2):49-71)


A subjective feeling that an experience which has occurred before is being experienced for the first time. [HPO:probinson]


Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. [HPO:probinson]


Difficulty of a male in achieving orgasm. [HPO:probinson, PMID:24528812]


Corticospinal signs
Pyramidal signs
Abnormal pyramidal sign

Functional neurological abnormalities related to dysfunction of the pyramidal tract. [HPO:probinson]


Extrapyramidal dysfunction
Extrapyramidal signs
Extrapyramidal symptoms
Extrapyramidal tract signs

A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). [HPO:probinson]

Abnormality of extrapyramidal motor function


A neurological disorder characterized by impairment of handwriting ability that may be associated with other learning disabilities in children or traumatic damage to the parietal lobe in adults.


A finding indicating the complete absence of neurological reflexes.


Anomaly of the physiological response to maintain the body's posture when movement and position is altered. [PMID:15246484]


Lack of coordination of movement necessary to execute a smooth action; often the person over reaches or under reaches. This condition is sometimes symptomatic of a cerebellar cognitive dysfunction.


A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.


An involuntary, primal response in the neonate when a nipple is placed on an infant's lips.


An involuntary, primal response in the neonate to grasp the fingers when their palm is touched. This reflex is present until six months of age.


A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve. [PMID:22970971, PMID:29443134]


A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. [HPO:probinson]


A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. []


Applied to pain that is tender, i.e., elicited by touching the affected body part. []


A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. [HPO:probinson]


A tremor that occurs with the voluntary movement of a muscle. Subcategories include postural, kinetic, and isometric tremors.


A type of tremors that is triggered by holding a limb in a fixed position. [HPO:probinson]


A movement disorder characterized by involuntary and rhythmic shaking of a body part that is relaxed and not held against gravity, and where the tremor amplitude decreases with voluntary movements. Resting tremor is a common sign of Parkinson's disease.


Disturbances of consciousness
Lowered consciousness


An inability to recognize or interpret objects by sight.


Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. [HPO:probinson]


An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. [HPO:curators]


The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition. (From Cortex 1995 Jun;31(2):317-29).


A defect in the motor ability that enables speech. [HPO:curators]


Abnormal coordination of muscles involved in speech. [DDD:fmunitoni]


Generalised onset seizure
Generalised-onset seizure
Generalized-onset seizure
Generalised seizures
Primary generalized seizure
Generalized onset seizure
Generalized seizures
Generalized-onset seizures

clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells; clinical manifestations include abnormal motor, sensory and psychic phenomena; recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."


A convulsion marked by alternating contracting and relaxing of the muscles.


An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. []


This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases. [PMID:19881070]


Abnormality of colour vision
Abnormality of color vision
Abnormal color vision
Color vision defect
Colour vision defect
Disturbed color vision

An anomaly in the ability to discriminate between or recognize colors. [HPO:probinson]


Decreased central vision
Decreased clarity of vision
Decreased visual acuity
Reduced visual acuity


An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea. [PMID:30480980]


An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. [HPO:probinson]


Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. [PMID:17314191, UManchester:psergouniotis]


Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. [ORCID:0000-0003-0986-4123]


Abnormal superior displacement of resting upper lid margin or abnormal inferior displacement of resting lower lid margin.


Raised intraocular pressure
Elevated intraocular pressure
Ocular hypertension
Elevated IOP
Increased intraocular pressure
High eye pressure
Raised IOP

Increased pressure of the intraocular fluid in the eye.


The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. [HPO:probinson]


A cough with a characteristic sound that has been compared to a seal's bark. [PMID:16936230, PMID:28613724]


An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. [HPO:probinson]


An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point. [PMID:32579185]


A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. [HPO:mtaboada, PMID:27821973]


Focal seizure without impairment of awareness

Partial seizure without impairment of awareness

Focal seizures without impairment of consciousness or awareness

Focal seizure without impairment of consciousness or awareness

A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. [HPO:probinson, ORCID:0000-0002-1735-8178, PMID:28276060, PMID:28276062, PMID:28276064]


A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. [HPO:probinson, HPO:zaferyueksel, UKB:tklockgether]

Difficulty performing quick and alternating movements


Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
Mental deterioration

Loss of previously present mental abilities, generally in adults. [HPO:probinson]


Inflammation or degeneration of the peripheral motor nerves.


A decrease in ventilation secondary to impaired signals from the central nervous system.


A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights. [HPO:probinson]


Tremor of limbs
Involuntary shaking of limb


Reduced peripheral vision
Visual field constriction
Limited peripheral vision
Constricted visual field
Constricted visual fields
Concentric narrowing of visual field

An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. [ORCID:0000-0003-0986-4123]


An exaggerated feeling of physical and emotional well-being not consonant with apparent stimuli or events; usually of psychologic origin, but also seen in organic brain disease and toxic states.


Diminished ability to concentrate
Concentration problems
Poor concentration

Being unable to focus one's attention or mental effort on a particular object or activity. []


Subcapsular cataract
Subcapsular cataracts
Subcapsular opacities

A cataract that affects the region of the lens directly beneath the capsule of the lens. [HPO:probinson]


Lay term applied to any condition with dilation of conjunctival or ciliary blood vessels; innumerable causes, especially irritation and infection.


Tooth hypoplasia
Hypoplastic teeth
Underdevelopment of teeth

Developmental hypoplasia of teeth. [HPO:ibailleulforestier]


Elevated circulating ketone body concentration

An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. [PMID:27036365]

Increased level of ketone bodies in blood


An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart. []


Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. [HPO:probinson]


Paroxysmal AF
Intermittent atrial fibrillation
Atrial fibrillation, paroxysmal

A disorder characterized by an electrocardiographic finding of episodic atrial fibrillation with abrupt onset and termination.


Finding characterised by slowing of blood flow to a peripheral body region in association with an increase in oxygen extraction from normally saturated arterial blood.


Hypopnea is referring to breathing that is abnormally shallow. []


Enlargement of the cervical lymph nodes usually due to infections or involvement by malignant neoplasms.


Less than 10 foetal movements in 12 hours

An abnormal reduction in quantity or strength of fetal movements. [HPO:curators]


Galactorrhoea
Spontaneous milk flow from breast

Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. [HPO:sdoelken]


A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483)


Nasal-septum perforation
Nasal septum perforation

An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process.


Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.


Diaphragmatic hernia that is present at birth.


Abnormally decreased lacrimation, that is, reduced ability to produce tears. [HPO:probinson]


Pulmonic infiltration
Pulmonary infiltrates

A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.


Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. []


Abnormality of the skull bones
Abnormality of the skull

An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. [HPO:probinson]


Atrophy of the cerebrum caused by focal or generalized neuronal loss.


Increased levels of alpha fetoprotein
Increased serum alpha-fetoprotein
Serum alpha-fetoprotein increased

A finding indicating elevated concentrations of alpha-fetoprotein in the blood.


Elevated circulating somatotropin concentration

Elevated circulating growth hormone concentration

Overproduction of growth hormone, a protein-based peptide that stimulates growth, cell reproduction, and cell regeneration.


The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. [PMID:22449945]


A newborn infant who has weight and/or length at birth more than two standard deviations below the mean for the reference population of the same sex and gestational age.


Raised liver enzymes
High liver enzymes
Increased liver enzymes


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


Pharyngeal oedema
Pharyngeal edema
Throat swelling

Abnormal accumulation of fluid leading to swelling of the pharynx. [HPO:probinson]


A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).


GI obstruction
Gastrointestinal obstruction


Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. [PMID:3542299]


High immunoglobulin E
Elevated serum IgE
Elevated immunoglobulin E

An abnormally increased overall level of immunoglobulin E in blood. [HPO:probinson]


Dextroamphetamine addiction
Amphetamine dependence
Amphetamine addiction

Addiction to amphetamine or dextroamphetamine. [ORCID:0000-0002-4095-8489, PMID:28790493]


A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.


Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. [https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf]


A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening. [PMID:7809306]


Desquamation
peeling skin
Scaling skin
flaking skin

Shedding of the outer layer of skin or mucosal tissue.


A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae. [PMID:16184417]


A congenital anomaly characterized by the presence of two bladders. [PMID:25657554]


Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen. [LMU:crapp, PMID:26744680]


Symmetric, concentric, hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. [HPO:probinson]


An acquired or spontaneous abnormality in which there is communication between CAVERNOUS SINUS, a venous structure, and the CAROTID ARTERIES. It is often associated with HEAD TRAUMA, specifically basilar skull fractures (SKULL FRACTURE, BASILAR). Clinical signs often include VISION DISORDERS and INTRACRANIAL HYPERTENSION.


Inflammation of the blood vessels within the brain. [HPO:probinson]


Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE.


A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.


Spontaneous esophageal rupture
Spontaneous esophageal perforation

The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. [HPO:probinson]


A carcinoma arising from the fallopian tube. Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas.


An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. [MP:0011656]


A malignant mesenchymal neoplasm that arises from the heart. The majority of cases are angiosarcomas.


Epidural hematoma
Epidural haematoma
Extradural hematoma
Extradural haematoma
Epidural haemorrhage

Intracranial hemorrhage into the epidural space.


Gastrointestinal stromal tumour
Gastrointestinal stroma tumour
GI stroma tumour
GI stroma tumor
Gastrointestinal stromal tumor
GIST
Gastrointestinal stromal tumours
Gastrointestinal stromal tumors

All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).


Displaced kidney
Ectopic kidney
Abnormal kidney location
Renal ectopia

A developmental defect in which a kidney is located in an abnormal anatomic position. [HPO:probinson]


Malrotation of the kidney
Abnormal rotation of the kidneys

An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. [HPO:probinson]


An abscess that is located outside the renal capsule, but which is within Gerota's space.


A tear in the cartilaginous pad (meniscus) of the knee. [PMID:21126396, PMID:26488288]


A partial or complete breakage of the larynx. []


Narrowing of the tear duct
Nasolacrimal duct stenosis

Narrowing of a tear duct (lacrimal duct). [HPO:probinson]


Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. [HPO:probinson]


A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas. []


An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)


Filling of the alveoli with alveolar macrophages

A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.


Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. [HPO:curators]


Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. [HPO:curators]


A congenital or acquired cardiovascular abnormality characterized by the narrowing of the lumen of the main pulmonary artery or its branches. Signs and symptoms include dyspnea, tachypnea, tachycardia, fatigue, and edema.


Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. [HPO:probinson]


A severe pyogenic infection of the epidural space

Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA. [PMID:24007734, PMID:26540492]


A partial or complete breakage of the sternum. []


A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.


The formation of a thrombus in the renal vein.


An aggressive THYROID GLAND malignancy which generally occurs in IODINE-deficient areas in people with previous thyroid pathology such as GOITER. It is associated with CELL DEDIFFERENTIATION of THYROID CARCINOMA (e.g., FOLLICULAR THYROID CARCINOMA; PAPILLARY THYROID CANCER). Typical initial presentation is a rapidly growing neck mass which upon metastasis is associated with DYSPHAGIA; NECK PAIN; bone pain; DYSPNEA; and NEUROLOGIC DEFICITS.


A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.


Papillary carcinoma of thyroid
Papillary thyroid carcinoma

A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.


A benign adipose tissue neoplasm of the tongue.


The prolapse of the female urethra into the vagina. [HPO:sdoelken]


Posterior urethral valves
Congenital posterior urethral valve

A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction.


A morphologic variant of adenocarcinoma that arises from the vagina. It is characterized by the presence of malignant glandular epithelium and clear cells containing glycogen.


An indication that the anterior abdominal wall is sunken or has a concave appearance on visual inspection.


A voluntary contraction of the abdominal wall musculature to avoid pain. []


Congenital anterior abdominal wall defect

An incomplete closure of the abdominal wall. [HPO:probinson]


The absence of all phalanges of all the digits of a limb and the associated soft tissues. [PMID:19125433]


An increased concentration of an amino acid in the urine. [HPO:SKOEHLER]


Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. [HPO:probinson]


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


Reduced intensity of the biceps tendon reflex. []


Affecting both sides of the body or a matched pair of organs.


Abnormal increased number of megaloblasts in the bone marrow. [HPO:probinson]


Impaired mastication
Difficulty chewing
Chewing difficulty

Pain or discomfort with mastication, a symptom of underlying disease. Causes can include problems with the teeth, jaws or temporomandibular joint, mumps, cancer, or a neuromuscular disorder.


Pain in the jaw or ear induced by chewing or otherwise moving the jaw. [HPO:probinson, PMID:12972467]


Reduced ability to climb stairs. [HPO:probinson]


Small dilated blood vessels near membrane covering front of eye and eyelids

The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. [HPO:probinson]


A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. [DDD:ncarter]


A cough accompanied by expectorated secretions.


Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental.


Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.


An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes.


Delayed dental development
Delayed tooth eruption
Delayed eruption
Late tooth eruption
Delayed teeth eruption
Eruption, delayed
Delayed eruption of teeth
Delayed dental eruption

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. [HPO:ibailleulforestier, PMID:19125428, PMID:31468724]


Episodic diarrhoea
Intermittent diarrhea
Intermittent diarrhoea

Repeated episodes of diarrhea separated by periods without diarrhea. []


Feeling full quickly when eating
Not able to finish a normal-sized meal

A question about whether an individual has experienced early satiety.


Low-set ears
Melotia
Low set ears
Lowset ears

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. [HPO:probinson, PMID:19152421]


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


A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity. []


Blockage of the normal flow of the contents in the esophagus.


Pedal edema
Fluid accumulation in lower limbs
Oedema of the lower limbs
Leg oedema
Peripheral oedema of lower extremity
Peripheral edema of lower extremity
Pedal oedema
Lower leg swelling

An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. [HPO:probinson]


A sensation of discomfort emanating from the humerus or its supporting structures.


Hypoplasia involving bones of the extremities

Limb shortening because of underdevelopment of one or more bones of the extremities. [HPO:probinson]


Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin. []


Round face
Round facial shape
Circular face
Round facial appearance
Round facies

The facial appearance is more circular than usual as viewed from the front. [PMID:19125436]


Bluish discoloration of one or more regions of the face. [ORCID:0000-0002-9578-0788]


Red in the face
Red face
Facial erythema

Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. [HPO:probinson]


Twitching of the tongue
Tongue fasciculations/fibrillations
Tongue fasciculation
Tongue twitching
Lingual twitching
Lingual fibrillations
Lingual fasciculations

Fasciculations or fibrillation affecting the tongue muscle. [HPO:probinson]


Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic. [PMID:10791209]


Body temperature ranging between 100.4 degrees Fahrenheit (38 degrees Celsius) and 102 degrees Fahrenheit (38.9 degrees Celsius).


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


A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity. []


Swelling of fingers
Finger swelling
Swollen fingers

Enlargement of the soft tissues of one or more fingers. [PMID:16269085, PMID:19946526, PMID:24758199, PMID:9715244]


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 foot. []


An abnormally increased height of the forehead. [HPO:probinson]


An abnormal green color of urine. [PMID:28413291]


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


Ginger hair color
Red hair
Red hair colour
Red head (hair color)
Ginger hair colour


Hypopigmented hair that appears white. [DDD:cmoss]


Clenched hands
Hand clenching
Clenched hand

An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted. [HPO:sdoelken, PMID:10085502, PMID:16702456]


Amyotrophy involving the musculature of the hand

Muscular atrophy involving the muscles of the hand. [HPO:curators]


Reduced strength of the musculature of the hand. [HPO:probinson]


An unpleasant sensation characterized by physical discomfort localized to the hand. []


Tingling (often refered to as a pins and needles feeling) and numbness in the hand. []


Tremor of hands
Tremor of hand
Hand tremor

An unintentional, oscillating to-and-fro muscle movement affecting the hand. []


An unintentional, oscillating to-and-fro muscle movement affecting head movement. [HPO:probinson]


An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. [HPO:probinson]


Occult hematuria
Microscopic hematuria
Microhematuria

Microscopic hematuria detected by dipstick or microscopic examination of the urine. [HPO:sdoelken]


Persistence of haemoglobin F
Increased hemoglobin F
Persistence of HbF
Increased haemoglobin F

A laboratory test result indicating an abnormal amount of fetal hemoglobin in a biological sample.


A condition in which the liver parenchyma is replaced by fibrous tissue. It may progress to cirrhosis of the liver.


The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux. [HPO:probinson, PMID:24085809]


A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity. []


A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA).


Elevated serum IgA
Elevated IgA
Increased serum IgA
Increased levels of IgA
IgA hypergammaglobulinemia

An abnormally increased level of immunoglobulin A in blood. [HPO:probinson]


IgM deficiency
Reduced IgM levels
Decreased IgM level
Decreased IgM

An abnormally decreased level of immunoglobulin M (IgM) in blood. [HPO:probinson]


Recurrent infections
Frequent infections
Predisposition to infections
Increased frequency of infection
infections, recurrent

Increased susceptibility to infections. [HPO:probinson, HPO:skoehler]