interstitial emphysema

Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.


primary interstitial lung disease in childhood and adulthood

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon


lung occult adenocarcinoma

A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.


isolated pulmonary capillaritis

Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.


cytomegalovirus pneumonia due to NOS2 deficiency

Cytomegalovirus pneumonia due to variant in the NOS2 gene.


restrictive pulmonary disease

Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.


staphylococcal pneumonia

Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.


surfactant metabolism dysfunction, pulmonary, 5

Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.


idiopathic chronic eosinophilic pneumonia

A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).


pulmonary fibrosis and/or bone marrow failure, telomere-related


papillary lung adenocarcinoma

A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.


chronic eosinophilic pneumonia

Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.


Caplan syndrome

A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.


pulmonary systemic sclerosis

It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.


lung leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells.


pneumonitis

An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.


drug or radiation exposure-related interstitial lung disease


pulmonary blastoma

A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.


familial hypocalciuric hypercalcemia 1

Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.


viral pneumonia

Inflammation of the lung parenchyma that is caused by a viral infection.


Lane Hamilton syndrome

A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.


eosinophilic granuloma

A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.


anthracosilicosis

Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.


lung sarcomatoid carcinoma

A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.


chronic respiratory distress with surfactant metabolism deficiency


pleuropulmonary blastoma type 1

A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent.


lung pleomorphic carcinoma

A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located in the lung.


lung giant cell carcinoma

A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.


congenital lobar emphysema

Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.


shrinking lung syndrome

A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.


lung adenoid cystic carcinoma

A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.


solid adenocarcinoma with mucin production


sick building syndrome

A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)


interstitial lung disease specific to childhood

A interstitial lung disease that occurs during childhood.


combined pulmonary fibrosis-emphysema syndrome


combined lung carcinoma

A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.


familial hypocalciuric hypercalcemia 2

A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


secondary interstitial lung disease in childhood and adulthood


interstitial lung disease due to SP-C deficiency


lung germ cell tumor

A germ cell tumor that arises from the lung.


middle lobe syndrome

Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)


anaerobic pneumonia

A pneumonia caused by anaerobic bacteria.


lung meningioma

A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.


neonatal aspiration syndrome

Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.


bronchiectasis with or without elevated sweat chloride 3

Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.


pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.


severe early-onset pulmonary alveolar proteinosis due to MARS deficiency


lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.


pulmonary plasma cell granuloma

A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter.


lung hilum cancer

A malignant neoplasm involving the lung hilus.


lung sarcoma

A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.


lung carcinoma in situ

A carcinoma in situ involving a lung.


silicosis

Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.


interstitial lung disease due to ABCA3 deficiency

Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.


postinfectious bronchiolitis obliterans

An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood.


tuberculous fibrosis of lung

Scarring of the lung parenchyma caused by pulmonary tuberculosis.


acute respiratory distress syndrome

Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.


bronchus carcinoma in situ

A carcinoma in situ involving a bronchus.


lipid pneumonia

Pneumonia due to aspiration or inhalation of various oily or fatty substances.


lung superior sulcus carcinoma

A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.


newborn respiratory distress syndrome

A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.


lung adenoma

A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.


desquamative interstitial pneumonia

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.


follicular bronchiolits

A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.


idiopathic interstitial pneumonia

A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).


Graham-Boyle-Troxell syndrome

Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.


lung abscess

A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis.


bronchiolocentric pattern of interstitial pneumonia

An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.


malignant glomus tumor

A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.


pericytic neoplasm

A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.


adult malignant hemangiopericytoma

A malignant hemangiopericytoma occurring in the adult population.


breast hemangiopericytoma

A hemangiopericytoma arising from the breast.


skin glomus tumor

A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.


hemangiopericytoma

An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.


cutaneous glomangioma

A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.


hemangiopericytoma, malignant

An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.


hemangiopericytoma of skin

A hemangiopericytoma that involves the zone of skin.


myofibroma

A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.


infantile myofibromatosis

A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.


heart malignant hemangiopericytoma

A malignant hemangiopericytoma arising in the heart.


glomus tumor

A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.


myopericytoma

A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course.


cutaneous glomangiomyoma

A glomangiomyoma that involves the zone of skin.


Pericytoma with t(7;12)

A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.


telangiectatic glomangioma

A glomus tumor characterized by huge vascular channel formations.


angioleiomyoma

A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.


A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.


subungual glomus tumor

A glomus tumor arising in the finger and usually associated with pain.


kidney hemangiopericytoma

A hemangiopericytoma arising from the kidney.


glomangiomatosis

A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.


glomangioma

A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.


adult intracranial malignant hemangiopericytoma

A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population.


myofibromatosis, infantile, 2

Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.


meninges hemangiopericytoma

A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.


retroperitoneal hemangiopericytoma

A benign or malignant hemangiopericytoma arising from the retroperitoneum.


glomangiomyoma

A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.


myofibromatosis, infantile, 1

Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.


hemangiopericytic tumor

A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.


childhood malignant hemangiopericytoma

A malignant hemangiopericytoma occurring in childhood.


A malignant hemangiopericytoma arising in the mediastinum.


intravascular angioleiomyoma

A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.


benign perivascular tumor

A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.


Blood pressure substantially higher in legs than arms

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An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.


brachydactyly type A1

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.


psychologic vaginismus

Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.


dermatoleukodystrophy

Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.


mitochondrial complex 1 deficiency, nuclear type 28


biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Catalysis of the reaction: H+ + NADH + O2 + quinolin-4-ol = H2O + NAD+ + quinoline-3,4-diol.


esophageal small cell neuroendocrine carcinoma

An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.


N8-acetylspermidine:oxygen oxidoreductase (propane-1,3-diamine-forming) activity

Catalysis of the reaction: H2O + N(8)-acetylspermidine + O2 = 1,3-diaminopropane + 4-acetamidobutanal + H2O2.


effector-mediated suppression of host pattern-triggered immunity signaling

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A process mediated by a molecule secreted by a symbiont that results in the suppression of a pattern-triggered immunity PTI signaling pathway. PTI signaling pathways are found in plants.


effector-mediated suppression of host innate immune response

A process mediated by a molecule secreted by a symbiont that results in the suppression of a host innate immune response. The host is defined as the larger of the organisms involved in a symbiotic interaction.


effector-mediated suppression of host pattern-triggered immunity

A process mediated by a molecule secreted by a symbiont that results in the suppression of the innate immune response of the host organism via recognition of a microbe-associated molecular pattern. The innate immune response is the host's first line of defense against infection. The host is defined as the larger of the organisms involved in a symbiotic interaction.


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A protein complex that consists of an alpha2-beta1 integrin complex bound to a type VI collagen triple helix containing an alpha3(VI) chain.


negative regulation of proline import across plasma membrane

Any process that stops, prevents or reduces the frequency, rate or extent of proline import into cell.


Catalysis of the reaction: (S)-3-hydroxybutanoate + 2-oxoglutarate = acetoacetate + (R)-2-hydroxyglutarate.


positive regulation of myofibroblast cell apoptotic process

Any process that activates or increases the frequency, rate or extent of myofibroblast cell apoptotic process.


polyglucosan body myopathy 1 with or without immunodeficiency

A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.


muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4


myopathy caused by variation in FKTN

Any myopathy in which the cause of the disease is a variation in the FKTN gene.


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.


autosomal recessive limb-girdle muscular dystrophy type 2M

A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.


cyclic-GMP-AMP transmembrane import across plasma membrane

The directed movement of cyclic-GMP-AMP from outside of a cell, across the plasma membrane and into the cytosol.


positive regulation of synoviocyte proliferation

Any process that activates or increases the frequency, rate or extent of synoviocyte proliferation.


positive regulation of type B pancreatic cell proliferation

Any process that activates or increases the frequency, rate or extent of type B pancreatic cell proliferation.


positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis

Any process that activates or increases the frequency, rate or extent of blood vessel endothelial cell proliferation involved in sprouting angiogenesis.


positive regulation of vascular endothelial cell proliferation

Any process that activates or increases the frequency, rate or extent of vascular endothelial cell proliferation.


positive regulation of cholangiocyte proliferation

Any process that activates or increases the frequency, rate or extent of cholangiocyte proliferation.


positive regulation of thyroid gland epithelial cell proliferation

Any process that activates or increases the frequency, rate or extent of thyroid gland epithelial cell proliferation.


positive regulation of epithelial cell proliferation involved in lung bud dilation

Any process that increases the rate or frequency of epithelial cell proliferation that results in the lung bud increasing in size radially.


positive regulation of acinar cell proliferation

Any process that activates or increases the frequency, rate or extent of acinar cell proliferation.


positive regulation of urothelial cell proliferation

Any process that activates or increases the rate or extent of urothelial cell proliferation.


positive regulation of granulosa cell proliferation

Any process that activates or increases the frequency, rate or extent of granulosa cell proliferation.


isolated thyroid-stimulating hormone deficiency

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.


Compensated hypothyroidism

Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).


central congenital hypothyroidism

Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.


isolated thyrotropin-releasing hormone deficiency

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


glucosamine catabolic process

The chemical reactions and pathways resulting in the breakdown of glucosamine (2-amino-2-deoxyglucopyranose), an aminodeoxysugar that occurs in combined form in chitin.


The (R)-enantiomer of amfepramone.


structural constituent of ascospore wall

The action of a molecule that contributes to the structural integrity of an ascospore wall.


breast leiomyoma

A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


Platinum-Sensitive Endometrial Serous Adenocarcinoma

Endometrial serous adenocarcinoma that has a documented response to platinum-based chemotherapy.


Demyelinating sensory neuropathy

Demyelination of peripheral sensory nerves.


Ampulla of Vater Tubulovillous Adenoma

An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of tubular and villous epithelial structures and it is associated with dysplasia.


negative regulation of phosphatidylserine biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of phosphatidylserine biosynthetic process.


regulation of phosphatidylserine biosynthetic process

Any process that modulates the frequency, rate or extent of phosphatidylserine biosynthetic process.


positive regulation of phosphatidylserine biosynthetic process

Any process that activates or increases the frequency, rate or extent of phosphatidylserine biosynthetic process.


peptide cross-linking via S-(2-aminovinyl)-D-cysteine

The synthesis of (S,Z)-S-(2-aminovinyl)cysteine forming an intra-polypeptide cross-link between serine and cysteine.


Catalysis of the reaction: estradiol-17-alpha + NAD(P)+ = estrone + NAD(P)H + H+.


testosterone dehydrogenase [NAD(P)] activity

Catalysis of the reaction: testosterone + NAD(P)+ = androst-4-ene-3,17-dione + NAD(P)H + H+.


Bracket epiphysis of the proximal phalanx of the 3rd toe


Schinzel-Giedion syndrome

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.


tubulopapillary adenoma of extrahepatic bile duct

An adenoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of tubular and papillary growth patterns.


Progressive congenital scoliosis

A progressive form of scoliosis with congenital onset.


7-methylguanosine catabolic process

The chemical reactions and pathways resulting in the breakdown of 7-methylguanosine, a modified nucleoside that forms a cap at the 5'-terminus of eukaryotic mRNA.


inosine catabolic process

The chemical reactions and pathways resulting in the breakdown of inosine, hypoxanthine riboside, a nucleoside found free but not in combination in nucleic acids except in the anticodons of some tRNAs.


xanthosine catabolic process

The chemical reactions and pathways resulting in the breakdown of xanthosine.


guanosine catabolic process

The chemical reactions and pathways resulting in the breakdown of guanine, guanine riboside, a nucleoside with a wide species distribution.


positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation

Any process that activates or increases the frequency, rate or extent of canonical Wnt signaling pathway modulating the rate or frequency of pancreatic B cell proliferation.


negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation

Any process that stops, prevents, or reduces the frequency, rate or extent of canonical Wnt signaling pathway modulating the rate or frequency of pancreatic B cell proliferation.


congenital isolated adrenocorticotropic hormone deficiency

A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.


vestibular receptor cell stereocilium organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of vestibular hair cells.


neuron projection organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a neuron, e.g. an axon, or a dendrite.


neuron projection maintenance

The organization process that preserves a neuron projection in a stable functional or structural state. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.


neuron projection retraction

The organization process which results in the disassembly (either partial or complete) of constituent parts of a neuron projection. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.


periodic fever syndrome

Fevers of unknown etiology recurring over months or years.


Quotidian fever

Fever that occurs at daily intervals.


mating type region replication fork barrier binding

Binding to the replication fork barrier found in the mating type region of fission yeast.


nuclear migration to embryo sac poles

Migration of the nuclei of the two-nucleate embryo sac to opposite poles of the cell.


mitogen-activated protein kinase kinase kinase kinase binding

Binding to a mitogen-activated protein kinase kinase kinase kinase, a protein that can phosphorylate a MAP kinase kinase kinase.


protein histidine kinase binding

Binding to a protein histidine kinase.


protein serine/threonine kinase binding

Binding to a protein serine/threonine kinase.


efferent portion of pharyngeal arch artery

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A section of a pharyngeal arch artery that carries blood away from the gills.


Umbilical Hernia with Obstruction without Mention of Gangrene

The protrusion of contents of the abdominal cavity through the abdominal wall, at the site of the umbilicus, which results in obstruction, without mention of necrosis of the herniated contents.


Pulmonary myxoid sarcoma with EWSR1-CREB1 translocation

A sarcoma that arises from the lung. It is related to a bronchus and is often predominantly endobronchial. It is characterized by the proliferation of round and spindle cells within a myxoid stroma. It is associated with the presence of an EWSR1-CREB1 fusion gene.


lymphoepithelioma-like acinar prostate adenocarcinoma

A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.


Ventricular myxoma

A cardiac myxoma arising from the ventricle.


myxoma

A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.


Cutaneous myxoma

A myxoma originating in the skin.


Intramuscular Myxoma

A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.


Atrial myxoma

A cardiac myxoma arising from the atrium.


Ovarian Myxoma

A myxoma arising from the ovary.


Myxoma of the Endocardium

A myxoma arising from the endocardium.


Right atrial myxoma

A cardiac myxoma arising from the right atrium.


Conjunctival Myxoma

A rare myxoma arising from the bulbar conjunctiva.


Juxta-Articular Myxoma

A rare myxoma that usually arises in an area close to a large joint.  Morphologically it resembles a cellular myxoma.  In contrast to an intramuscular myxoma, it is not associated with mutations of the GNAS gene.


Follicular Myxoma

A cutaneous myxoma arising from the hair follicle.


Left atrial myxoma

A cardiac myxoma arising from the left atrium.


Cellular Myxoma

An intramuscular myxoma with increased cellularity and increased numbers of collagen fibers and blood vessels.


viral inner membrane

The lipid bilayer of a virion contained inside the protein capsid.


Catalysis of the reaction: 4-hydroxyphenylacetate + NADPH + H+ + O2 = homogentisate + NADP+ + H2O.


neurofibroma of spinal cord

A neurofibroma that arises from the spinal cord.


adult pure red cell aplasia

Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.


transient erythroblastopenia of childhood

An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.


Abnormal coronary artery physiology

Any anomaly of the function of a coronary artery.


Anti-U3 RNP antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP.


pericardial nephrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a pericardial nephrocyte. A pericardial nephrocyte is an insect renal cell that filters hemolymph and is found with other pericardial nephrocytes in two rows flanking the dorsal vessel. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.


Catalysis of the reaction: glucosaminyl-phosphatidylinositol + fatty acyl-CoA = glucosaminyl-acyl-phasphotidylinositol + CoA.


phosphatidylinositol 5-phosphate biosynthetic process

The chemical reactions and pathways resulting in the formation of phosphatidylinositol 5-phosphate.


negative regulation of aorta morphogenesis

Any process that stops, prevents or reduces the frequency, rate or extent of aorta morphogenesis.


positive regulation of pseudohyphal growth by positive regulation of transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of pseudohyphal growth by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter.


positive regulation of pseudohyphal growth

Any process that activates or increases the frequency, rate or extent of pseudohyphal growth.


smooth muscle endomysium

Reticular tissue which surrounds a smooth muscle cell.


dense deposit disease

Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.


Membranoproliferative Glomerulonephritis Type 3 (AQ)

Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy.


Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.


Locally Advanced Lung Small Cell Carcinoma

Lung small cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


large B-cell diffuse lymphoma of lacrimal gland

A diffuse large B-cell lymphoma that arises from the lacrimal gland.


tolerance induction in nasopharyngeal-associated lymphoid tissue

Tolerance induction taking place in the nasopharyngeal-associated lymphoid tissue (NALT).


intellectual disability, autosomal dominant 39

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.


positive regulation of maltose transport

Any process that activates or increases the frequency, rate or extent of maltose transport.


A 16-hydroxy steroid in which the hydroxy group at position 16 has alpha-configuration.


dextrocardia

A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.


(+)-Sulpiride

An optically active form of sulpiride having (R)-configuration. The active enantiomer of the racemic drug sulpiride.


Levosulpiride

An optically active form of sulpiride having (S)-configuration. The active enantiomer of the racemic drug sulpiride. Selective D2-like dopamine antagonist (Ki values are ~ 0.015. ~ 0.013, 1, ~ 45 and ~ 77 muM at D2, D3, D4, D1 and D5 receptors respectively).


negative regulation of postsynaptic membrane organization

Any process that stops, prevents or reduces the frequency, rate or extent of postsynaptic membrane organization.


negative regulation of AMPA glutamate receptor clustering

Any process that stops, prevents or reduces the frequency, rate or extent of AMPA glutamate receptor clustering.


positive regulation of AMPA glutamate receptor clustering

Any process that activates or increases the frequency, rate or extent of AMPA glutamate receptor clustering.


positive regulation of cellular alcohol catabolic process

Any process that activates or increases the frequency, rate or extent of cellular alcohol catabolic process.


positive regulation of ethanol catabolic process by positive regulation of transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter and activates or increases the frequency, rate or extent of an ethanol catabolic process.


positive regulation of ethanol catabolic process

Any process that activates or increases the frequency, rate or extent of ethanol catabolic process.


organic anion

Any organic ion with a net negative charge.


aldonate

A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of an aldonic acid.


Pyridoxal 5'-phosphate(2-)

The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate.


Salicylate

Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid.


Pyridoxamine 5'-phosphate(1-)

An organophosphate oxoanion that is the conjugate base of pyridoxamine 5'-phosphate.


Carbamate

Any ester of carbamic acid or its N-substituted derivatives.


monocarboxylic acid anion

A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated.


carboxylic acid anion

The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated.


Thiamine(1+) triphosphate(4-)

Trianion of thiamine(1+) diphosphate arising from deprotonation of the four OH groups of the triphosphate.


Dianion of pyridoxine 5'-phosphate.


Thiamin diphosphate

Dianion of thiamine(1+) diphosphate arising from deprotonation of the three OH groups of the diphosphate.


A pyridoxate that is the conjugate base of 4-pyridoxic acid, obtained by deprotonation of the carboxy group.


Monophosphothiamine

An organophosphate oxoanion that is the conjugate base of thiamine(1+) monophosphate(1-), arising from the deprotonation of the phosphate group. Major microspecies at pH 7.3.


peripheral B cell receptor editing

The process that takes place mainly in germinal center B cells in which a large number of mutations are generated in the heavy chain and light chain V-region genes and their immediately surrounding introns in order to increase antibody diversity and contribute to affinity maturation.


isotype switching to IgE isotypes

The switching of activated B cells from IgM biosynthesis to IgE biosynthesis, accomplished through a recombination process involving an intrachromosomal deletion between switch regions that reside 5' of the IgM and IgE constant region gene segments in the immunoglobulin heavy chain locus.


immunoglobulin heavy chain V-D-J recombination

The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).


isotype switching to IgG isotypes

The switching of activated B cells from IgM biosynthesis to biosynthesis of an IgG isotype, accomplished through a recombination process involving an intrachromosomal deletion between switch regions that reside 5' of the IgM and one of the IgG constant region gene segments in the immunoglobulin heavy chain locus.


central B cell receptor editing

Receptor editing occurring in B cells in the bone marrow.


interleukin-4-dependent isotype switching to IgE isotypes

The switching of activated B cells from IgM biosynthesis to IgE biosynthesis, accomplished through a recombination process involving an intrachromosomal deletion between switch regions that reside 5' of the IgM and IgE constant region gene segments in the immunoglobulin heavy chain locus, that is dependent on the activity of interleukin 4 (IL-4).


isotype switching to IgA isotypes

The switching of activated B cells from IgM biosynthesis to biosynthesis of an IgA isotype, accomplished through a recombination process involving an intrachromosomal deletion between switch regions that reside 5' of the IgM and one of the IgA constant region gene segments in the immunoglobulin heavy chain locus.


B cell receptor editing

The process of replacing receptors on B cells, in which RAG gene expression allows continued light-chain gene rearrangement and expression of a new light change which combines with the previous heavy chain to form a new receptor.


immunoglobulin light chain V-J recombination

The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).


isotype switching to IgD isotypes

The switching of activated B cells from IgM biosynthesis to IgD biosynthesis, accomplished through a recombination process involving an intrachromosomal deletion between switch regions that reside 5' of the IgM and IgD constant region gene segments in the immunoglobulin heavy chain locus.


bone marrow disorder

Any disease of the bone marrow.


Bone marrow vacuolated lymphocytes

The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.


Megakaryocyte dysplasia

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


Increased megakaryocyte colony forming unit count

Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.


Abnormal granulocytopoietic cell morphology

An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.


Abnormality of multiple cell lineages in the bone marrow


Myeloid maturation arrest

Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


Myelokathexis

Impaired egress of mature neutrophils from bone marrow causing neutropenia.


Megaloblastic bone marrow

Abnormal increased number of megaloblasts in the bone marrow.


Bone marrow hypocellularity

A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.


Bone marrow arrest at the promyelocytic stage

A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.


Increased megakaryocyte count

Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.


Granulocytic hypoplasia

Decreased number of granulocyte precursors in the bone marrow.


Increased micromegakaryocyte count

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


Megakaryocyte nucleus hypolobulation

The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.


Bone marrow maturation arrest

Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.


Abnormal megakaryocyte morphology

Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.


Abnormality of bone marrow stromal cells


Reduced bone-marrow pro-B cell count

A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.


Megakaryocyte nucleus hyperlobulation

The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.


Abnormal number of granulocyte precursors


Bone marrow xanthomatosis

Lipid deposits localized within the bone marrow. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Bone marrow hypercellularity

A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.


Reduced bone-marrow megakaryocyte size

Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.


Megakaryocytopenia

A reduced count of megakaryocytes.


Increased bone marrow iron

An increased amount of iron in the bone marrow.


Increased multinucleated megakaryocyte count

The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.


conjunctival vascular disorder

A disorder of the vasculature of the cornea.


RNA polymerase II CTD heptapeptide repeat S2 kinase activity

Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphoserine (position 2).


RNA polymerase II CTD heptapeptide repeat S5 kinase activity

Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphoserine (position 5).


RNA polymerase II CTD heptapeptide repeat S7 kinase activity

Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphoserine (position 7).


RNA polymerase II CTD heptapeptide repeat Y1 kinase activity

Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphotyrosine (position 1).


RNA polymerase II CTD heptapeptide repeat T4 kinase activity

Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphothreonine (position 4).


Fatty casts

A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.


infiltrating bladder urothelial carcinoma sarcomatoid variant

An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.


infiltrating bladder urothelial carcinoma

An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.


lymphoma-like variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma with lymphoma-like features.


plasmacytoid variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma. It is characterized by plasmacytoid-like features.


microcystic variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma. It is characterized by microcysts formation. It is also associated with intracytoplasmic mucin deposits and calcification in cyst walls.


infiltrating bladder urothelial carcinoma, clear cell variant

An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.


nested variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma. It is characterized by a nested growth pattern.


micropapillary variant infiltrating bladder urothelial carcinoma

An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003


infiltrating bladder lymphoepithelioma-like carcinoma

Infiltrating carcinoma with lymphoepithelioma-like features that affects the bladder.


lipid-cell variant infiltrating bladder urothelial carcinoma

A variant of infiltrating bladder urothelial carcinoma characterized by the presence of lipid laden tumor cells.


Cardiovascular System Signs and Symptoms


Venous Hum

An innocent murmur with a medium pitched, blowing character with diastolic accentuation heard at the right or left upper sternal border that disappears with jugular venous compression or supine position. (ACC/AHA)


Innocent Pulmonary Systolic Murmur

An innocent murmur with a medium pitched, harsh character heard at the left middle and left upper sternal border that disappears with upright position. (ACC/AHA)


Innocent Murmur

A clinical finding in which turbulent flow is noted by auscultation that is not associated with any structural cardiac defects. (ACC/AHA)


Physiologic Pulmonary Artery Stenosis Murmur

An innocent murmur with a medium or high pitched, blowing character heard at the left middle sternal border that can also be heard at the same volume across the precordium and back that does not disappear with maneuvers but is only heard in infants less than six months of age. (ACC/AHA)


Stable angina

Angina pectoris which has not recently changed in frequency, duration or intensity. Stable angina pectoris is relieved by rest or administration or oral, sublingual or transdermal antianginal medications.


Pathologic Murmur

A clinical finding in which turbulent flow is noted by auscultation that is associated with a structural cardiac defect. (ACC/AHA)


Still's Murmur

An innocent murmur with a medium pitched, vibratory character heard at the apex, left lower sternal border, left middle sternal border, and right upper sternal border that disappears or becomes quieter and localizes to the left lower sternal border on upright position. (ACC/AHA)


Cardiovascular Manifestation

Patient complaints (symptoms), physical/laboratory findings(signs) related to the cardiovascular system.


Atypical angina

Angina pectoris which does not have associated classical symptoms of chest pain. Symptoms may include weakness, nausea, or sweating.


Mammary Souffle

An innocent murmur with a medium or high pitched, blowing character with continuous flow with systolic accentuation heard over or above the breasts that disappears with compression of the breast tissue. (ACC/AHA)


secondary palate development

The biological process whose specific outcome is the progression of the secondary palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The secondary palate is the part of the palate formed from the fusion of the two palatine shelves, extensions of the maxillary prominences.


primitive palate development

The biological process whose specific outcome is the progression of the primitive palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure.


primary palate development

The process whose specific outcome is the progression of a primary palate over time, from its formation to the mature structure.


infective endocarditis

Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.


mycotic endocarditis

An endocarditis (disease) caused by infection with Fungi.


Libman-Sacks endocarditis

An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.


marantic endocarditis

Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).


bacterial endocarditis

Endocarditis that is caused by an infection with a bacterial agent.


ligase activity, forming nitrogen-metal bonds

Catalysis of the joining of a metal ion to a molecule via a nitrogen-metal bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.


ligase activity, forming nitrogen-metal bonds, forming coordination complexes

Catalysis of the ligation of two substances via a nitrogen-metal bond, forming a coordination complex.


cobaltochelatase activity

Catalysis of the reaction: ATP + Co(2+) + H2O + hydrogenobyrinate a,c-diamide = ADP + cob(II)yrinate a,c diamide + 4 H+ + phosphate.


magnesium chelatase activity

Catalysis of the reaction: ATP + H2O + Mg2+ + protoporphyrin IX = ADP + 3 H+ + Mg-protoporphyrin IX + phosphate.


The chemical reactions and pathways resulting in the formation of 1,5-anhydro-D-fructose.


polyp of sphenoidal sinus

A polyp that involves the sphenoidal sinus.


Limited neck extension

Reduced abilty to move the head back towards the ceiling so that one is looking upwards.


Stiff neck

A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.


Limited neck flexion

Reduced abilty to lower the chin towards the chest by bending the neck.


Limited head rotation

Reduced range of motion turning the head side to side.


Limited lateral neck flexion

Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.


vitamin D-dependent rickets, type 1

Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.


Decreased mean corpuscular hemoglobin concentration

A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.


Oxycephaly

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


autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).


Periodic hypokalemic paresis

Episodes of muscle weakness associated with reduced levels of potassium in the blood.


periodic paralysis

Episodes of muscle weakness.


hyperkalemic periodic paralysis

Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.


hypotrichosis 3

Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.


toll-like receptor 8 signaling pathway

biolink:Pathway biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:OntologyClass biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 8.


B cell receptor apoptotic signaling pathway

An extrinsic apoptotic signaling pathway initiated by the cross-linking of an antigen receptor on a B cell.


toll-like receptor 12 signaling pathway

The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 12.


endosomal pattern recognition receptor signaling pathway

The series of molecular signals initiated by the binding of a ligand to an intracellular vesicle pattern recognition receptor (PRR). PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


peptidoglycan recognition protein signaling pathway

The series of molecular signals initiated by binding of peptidoglycan to a receptor and ending with regulation of a downstream cellular process. The main outcome of the Imd signaling is the production of antimicrobial peptides.


toll-like receptor 15 signaling pathway

The series of molecular signals initiated by a ligand binding to toll-like receptor 15.


TRIF-dependent toll-like receptor 4 signaling pathway

The series of molecular signals initiated by a ligand binding to a toll-like 4 receptor where the TRIF adaptor mediates transduction of the signal. Toll-like 4 receptors are pattern recognition receptors that bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


endolysosomal toll-like receptor signaling pathway

The series of molecular signals initiated by a ligand binding to an endolysosomal pattern recognition receptor (PRR) of the toll-like family. PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


induced systemic resistance, ethylene mediated signaling pathway

The series of molecular signals mediated by ethylene (ethene) involved in induced systemic resistance.


MyD88-dependent toll-like receptor 4 signaling pathway

The series of molecular signals initiated by a ligand binding to a toll-like 4 receptor, where the MyD88 adaptor molecule mediates transduction of the signal. Toll-like 4 receptors bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


TIRAP-dependent toll-like receptor 4 signaling pathway

The series of molecular signals initiated by a ligand binding to a toll-like receptor 4 where the TIRAP/MAL adaptor mediates transduction of the signal. Toll-like 4 receptors are pattern recognition receptors that bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


TIRAP-dependent toll-like receptor signaling pathway

The series of molecular signals initiated by a ligand binding to a toll-like receptor where the TIRAP/MAL adaptor mediates transduction of the signal. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response.


induced systemic resistance, jasmonic acid mediated signaling pathway

The series of molecular signals mediated by jasmonic acid involved in induced systemic resistance.


toll-like receptor 21 signaling pathway

The series of molecular signals initiated by a ligand binding to toll-like receptor 21.


toll-like receptor 11 signaling pathway

The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 11.


pathogen-associated molecular pattern receptor signaling pathway

The series of molecular signals initiated by a ligand binding of a pattern recognition receptor (PRR) to activate a plant innate immune response. PAMP-triggered immunity PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


MyD88-dependent toll-like receptor 2 signaling pathway

The series of molecular signals initiated by a ligand binding to a toll-like 2 receptor where the MyD88 adaptor molecule mediates transduction of the signal. Toll-like 2 receptors are pattern recognition receptors that bind microbial pattern motifs to initiate an innate immune response.


cGAS/STING signaling pathway

The series of molecular signals initiated by the binding of a double-stranded DNA or RNA from another organism to cytosolic cyclic GMP-AMP (cGAMP) synthase (cGAS) that activates innate immune responses through production of the second messenger cGAMP, which activates the adaptor STING.


activation of membrane attack complex

The activation of the membrane attack complex components of the complement cascade which can result in death of a target cell through cytolysis.


complement component C5a signaling pathway

A G protein-coupled receptor signaling pathway initiated by a C5a component of the complement pathway binding to a complement receptor, and ending with regulation of a downstream cellular process. C5a is a peptide derived from the C5 complement factor.


toll-like receptor 13 signaling pathway

The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 13.


toll-like receptor 1 signaling pathway

The series of molecular signals initiated by a ligand binding to toll-like receptor 1.


positive regulation of mast cell activation by Fc-epsilon receptor signaling pathway

An Fc-epsilon receptor signaling pathway that results in the change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors.


toll-like receptor 6 signaling pathway

The series of molecular signals initiated by a ligand binding to toll-like receptor 6.


cell surface toll-like receptor signaling pathway

The series of molecular signals initiated by a ligand binding to a cell surface pattern recognition receptor (PRR) of the toll-like family.


stimulatory killer cell immunoglobulin-like receptor signaling pathway

The series of molecular signals initiated by a ligand binding to a killer cell immunoglobulin-like receptor capable of cellular activation.


acute hemorrhagic conjunctivitis

Acute conjunctivitis that is characterized by bleeding into the conjunctiva.


viral conjunctivitis

Conjunctivitis resulting from viral infection.


epidemic keratoconjunctivitis

Keratoconjunctivitis resulting from infection by adenoviruses.


cardiac blood vessel endothelial cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of a blood vessel endothelial cell of the heart. Blood vessel endothelial cells are thin flattened cells that line the inside surfaces of blood vessels.


venous endothelial cell differentiation

The process in which a relatively unspecialized endothelial cell acquires specialized features of a venous endothelial cell, a thin flattened cell that lines the inside surfaces of veins.


congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements

Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.


spindle cell sarcoma

A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.


spindle cell synovial sarcoma

A synovial sarcoma characterized by the presence of a spindle cell component only.


intimal sarcoma

A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.


childhood spindle cell rhabdomyosarcoma

A spindle cell rhabdomyosarcoma occurring in children.


spindle cell rhabdomyosarcoma

An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.


intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements

Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.


spindle cell liposarcoma

A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.


negative regulation of pre-miRNA processing

Any process that stops, prevents or reduces the frequency, rate or extent of pre-microRNA processing.


allene oxide synthase activity

Catalysis of the reaction: 13(S)-hydroperoxylinolenate = 12,13(S)-epoxylinolenate + H2O.


Abnormality of the alveolar ridges

Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.


Alveolar process hypoplasia

Underdevelopment of the alveolar process (also known as alveolar bone).


Bilateral alveolar cleft of maxilla

Nonmidline alveolar cleft of the maxilla.


Complete cleft maxillary alveolar ridge

Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.


Incomplete cleft maxillary alveolar ridge

Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.


Fibrous syngnathia

Complete or nearly complete soft tissue fusion of the alveolar ridges.


Cleft maxillary alveolar ridge

A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.


Alveolar ridge overgrowth

Increased width of the alveolar ridges.


Unilateral alveolar cleft of maxilla

One sided alveolar cleft of the maxilla.


cervical fibroepithelial polyp

A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.


lathosterolosis

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.


sterol biosynthesis disorder

An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.


desmosterolosis

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.


mevalonic aciduria

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


Greenberg dysplasia

A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.


X-linked chondrodysplasia punctata 2

A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.


X-linked chondrodysplasia punctata

X-linked form of chondrodysplasia punctata.


CHILD syndrome

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.


microcephaly-congenital cataract-psoriasiform dermatitis syndrome


X-linked chondrodysplasia punctata 1

Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.


Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.


cholesterol biosynthetic process disease

A disease that has its basis in the disruption of cholesterol biosynthetic process.


hyperimmunoglobulinemia D with periodic fever

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).


apical ectoplasmic specialization

Testis-specific junction between mature spermatids and Sertoli cells at the luminal end of the Sertoli cell.


primary plasmodesma

A plasmodesma that consists of a simple, single channel; found predominantly in young tissue and formed as a function of cell plate formation during cytokinesis.


nephrocyte diaphragm

A specialized cell-cell junction found between nephrocytes of the insect kidney, which is adapted for filtration of hemolymph. The insect nephrocyte is anatomically and functionally similar to the glomerular podocyte of vertebrates.


host-symbiont bicellular tight junction

An occluding cell-cell junction formed between the membranes of the apical end of an invading cell (e.g. a merozoite in Plasmodium) and a host target cell (e.g. erythrocyte for Plasmodium infection). The junction is a stable yet dynamic structure that moves around the symbiont cell during invasion, enclosing it in a vacuole surrounded by a membrane.


peg and socket contact

A cell-cell contact zone that consists of membrane invaginations extending from either cell, which contain tight-, gap-, and adherens junctions. Peg and socket contacts form between endothelial cells and pericytes, and between lens fiber cells.


spot adherens junction

A small cell-cell adherens junction assembled during the cellularization stage of insect embyrogenesis; spot adherens junctions later fuse to form the zonula adherens.


smooth septate junction

A septate junction that lacks the regular arrays of electron-dense septae found in pleated septate junctions.


septate junction

A cell-cell junction that forms a continuous band around each cell in an epithelium; within the septate junction the membranes of adjacent cells maintain a constant distance of approximately 15 nm; found in arthropods.


secondary plasmodesma

A plasmodesma with a branched structure, often with many channels leading into a larger central cavity; found in older tissues and usually derived from preexisting primary plasmodesmata.


pleated septate junction

A septate junction in which regular arrays of electron-dense septae span the intermembrane space.


basal ectoplasmic specialization

Testis-specific junction between mature Sertoli cells involved in establishing the blood-testis barrier of the Sertoli cell.


puncta adhaerentia

A small version of the zonula adherens type junction, characterized by a symmetrical adherent point between two cells.


plasmodesma

A fine cytoplasmic channel, found in all higher plants, that connects the cytoplasm of one cell to that of an adjacent cell.


flagellum attachment zone

A network of cytoskeletal and membranous connections responsible for the lateral attachment of the cilium to the cell body in some trypanosomatid species.


caffeate 3,4-dioxygenase activity

Catalysis of the reaction: trans-caffeate + O2 = 3-(2-carboxyethenyl)-cis,cis-muconate + 2 H+.


angiogenic sprout fusion

The connection of an angiogenic sprout to another vessel or sprout during the formation of vascular networks by sprouting angiogenesis.


Catalysis of the reaction: 2-oxo-2H-pyran-4,6-dicarboxylate + H2O = 4-carboxy-2-hydroxyhexa-2,4-dienedioate + H+.


Recurrent Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted

The reemergence of oligodendroglioma, IDH-mutant and 1p/19q-codeleted after a period of remission.


xeroderma pigmentosum, autosomal dominant, mild


Other Anatomic Concept

biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent


sagittal sinus

Either the inferior or superior sagittal sinus.


Papilla

A small protruding portion of tissue.


cell layer

Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium.


fast muscle tissue

The paler-colored muscle tissue of some mammals, composed of fast twitch muscle fibers.


superior sagittal sinus

The superior sagittal sinus (also known as the superior longitudinal sinus), within a human cranium, is an area above/behind the brain, which allows blood veins to span the area, from the top of the head towards the back. It is believed that the cerebrospinal fluid drains through the arachnoid granulations into the dural venous sinuses of the superior sagittal sinus. [WP,unvetted].


Claw

The curved, pointed appendage on the distal end of a digit, composed of keratin.


venous dural sinus

A venous channel found between layers of dura mater in the brain. Receives blood from internal and external veins of the brain, receive cerebrospinal fluid (CSF) from the subarachnoid space, and ultimately empty into the internal jugular vein.


viscus

An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen.


venous sinus

A large vein or channel for the circulation of venous blood.


neural decussation

Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6).


cavernous sinus

The cavernous sinus (or lateral sellar compartment), within the human head, is a large collection of thin-walled veins creating a cavity bordered by the temporal bone of the skull and the sphenoid bone, lateral to the sella turcica.


anatomical space

Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures.


Adnexa

An appendage or accessory structure of an adjacent or related organ.


multicellular organism

Anatomical structure that is an individual member of a species and consists of more than one cell.


anatomical projection

A projection or outgrowth of tissue from a larger body or organ.


inferior sagittal sinus

An intracranial venous sinus that lies in a midline location along the lower free border of the falx cerebri of the brain. The sinus receives blood from the great cerebral vein and joins the superior sagittal sinus posteriorly.


slow muscle tissue

The darker-colored muscle tissue of some mammals, composed of slow twitch muscle fibers.


intestinal villus

The tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold.


mesenchymal stem cell maintenance involved in metanephric nephron morphogenesis

The process in which an organism retains a population of mesenchymal stem cells that contributes to the shaping of a nephron in the metanephros. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.


mesenchymal stem cell maintenance involved in mesonephric nephron morphogenesis

The process in which an organism retains a population of mesenchymal stem cells that contributes to the shaping of a nephron in the mesonephros. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.


skeletal muscle satellite stem cell maintenance involved in skeletal muscle regeneration

Any process by which the number of skeletal muscle satellite stem cells in a skeletal muscle is maintained during skeletal muscle regeneration. There are at least two mechanisms by which this is achieved. Skeletal muscle satellite stem cell asymmetric division ensures satellite stem cell numbers are kept constant. Symmetric division of these cells amplifies the number of skeletal muscle satellite stem cells.


neuronopathy, distal hereditary motor, type 5A


Pfeiffer syndrome type 3

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.


Pfeiffer syndrome

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.


Pfeiffer syndrome type 2

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.


Pfeiffer syndrome type 1

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.


3p- syndrome

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.


partial deletion of the short arm of chromosome 3


3p25.3 microdeletion syndrome

A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.


Increased lymphocyte apoptosis

A elevation in the rate of apoptosis in lymphocytes.


Reduced CD95-induced lymphocyte apoptosis

Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.


Abnormal lymphocyte apoptosis

A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.


Decreased lymphocyte apoptosis

A reduction in the rate of apoptosis in lymphocytes.


Small intestinal lymphoplasmacytic infiltrate

Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.


medial plantar nerve

A plantar nerve that supplies the medial side of the plantar part of the foot, including pedal digit 1.


plantar nerve

A nerve that innervates the sole of the foot. Planar nerves arise from the posterior branch of the tibial nerve.


lateral plantar nerve

A plantar nerve that supplies the lateral side of the plantar part of the foot, including pedal digit 5.


severe X-linked mitochondrial encephalomyopathy

Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.


Heberden's node

Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.


hereditary multiple osteochondromas

A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.


regulation of trans-synaptic signaling by BDNF, modulating synaptic transmission

Any process that modulates the frequency, rate or extent of trans-synaptic signaling by BDNF, modulating synaptic transmission.


bilateral acute depigmentation of the iris

Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.


(S)-citramalyl-CoA lyase activity

Catalysis of the reaction: (3S)-citramalyl-CoA = acetyl-CoA + pyruvate.


nephrotic syndrome, type 12

Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.


Childhood Small Intestinal Carcinoma

A small intestinal carcinoma occurring in childhood.


Childhood Malignant Small Intestinal Neoplasm

A rare malignant small intestinal neoplasm that occurs during childhood.


Childhood Small Intestinal Leiomyosarcoma

A small intestinal leiomyosarcoma occurring in childhood.


articular capsule of glenohumeral joint

An articular capsule that is part of the glenohumeral joint.


Absence of subcutaneous fat

Lack of subcutaneous adipose tissue.


Loss of truncal subcutaneous adipose tissue

Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.


host-seeking behavior

The specific behavior of an organism that are associated with finding a host organism; may include behavioral responses to light, temperature, or chemical emanations from the prospective host.


post-embryonic ectodermal digestive tract development

The process, occurring during the post-embryonic phase, whose specific outcome is the progression of the ectodermal gut over time, from its formation to the mature structure.


larval lymph gland hemopoiesis

The production of blood cells from the larval lymph gland. The lymph gland consists of three to six bilaterally paired lobes that are attached to the cardioblasts during larval stages, and it degenerates during pupal stages.


larval fat body development

The process whose specific outcome is the progression of the larval fat body over time, from its formation to the mature structure. The larval fat body consists of a bilaterally symmetrical monolayer of cells lying between the gut and the muscles of the body wall. As in other tissues of the larva, the cells of the fat body complete their divisions in the embryo and increase in size and ploidy during larval life.


larval somatic muscle development

The process whose specific outcome is the progression of the larval somatic muscle over time, from its formation to the mature structure.


vulval development

The process whose specific outcome is the progression of the egg-laying organ of female and hermaphrodite nematodes over time, from its formation to the mature structure. In nematodes, the vulva is formed from ventral epidermal cells during larval stages to give rise to a fully formed vulva in the adult.


larval visceral muscle development

The process whose specific outcome is the progression of the larval visceral muscle over time, from its formation to the mature structure.


larval heart development

The process whose specific outcome is the progression of the larval heart over time, from its formation to the mature structure. In Drosophila the larval heart (dorsal vessel) is a continuous tube of mesodormal cells that runs beneath the dorsal midline of the epidermis, divided into an anterior aorta and a posterior heart proper.


combined oxidative phosphorylation defect type 9

Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.


Hyperinsulinism in the Infant of a Diabetic Mother

Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia.


RNA polymerase V complex

RNA polymerase V is a multisubunit RNA polymerase complex found in the nucleus of plants and involved in accumulation of siRNAs and in DNA methylation-dependent silencing of endogenous repeated sequences. Pol V is composed of subunits that are paralogous or identical to the 12 subunits of Pol II. Two large subunits comprise the most conserved portion including the catalytic site and share similarity with other eukaryotic and bacterial multisubunit RNA polymerases. The second largest subunit is also found in RNA polymerase IVa, while the largest subunit is found only in the IVa complex and contains an extended C-terminal domain (CTD) that includes multiple repeats of a 16 amino-acid consensus sequence as well as other sequences. The remainder of the complex is composed of smaller subunits.


Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.


ABC-type molybdate transporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + molybdate(out) = ADP + phosphate + molybdate(in).


molybdate ion transmembrane transporter activity

Enables the transfer of molybdate (MoO4 2-) ions from one side of a membrane to the other. Molybdate is the bivalent anion derived from molybdic acid.


prostaglandin binding

Binding to prostaglandin.


spermidine import across plasma membrane

The directed movement of spermidine from outside of a cell, across the plasma membrane and into the cytosol.


transport

The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein.


oligosaccharide transport

The directed movement of oligosaccharides into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Oligosaccharides are molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages.


cortisol secretion

The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland.


(+)-abscisic acid D-glucopyranosyl ester transmembrane transport

The process in which (+)-abscisic acid D-glucopyranosyl este is transported across a membrane.


L-valine transmembrane transport

The directed movement of L-valine across a membrane.


glutathione transport

The directed movement of glutathione, the tripeptide glutamylcysteinylglycine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


neurotransmitter receptor transport postsynaptic membrane to endosome

Vesicle-mediated transport of a neurotransmitter receptor complex from the postsynaptic membrane to the postsynaptic early endosome.


acyl carnitine transport

The directed movement of acyl carnitine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acyl carnitine is the condensation product of a carboxylic acid and carnitine and is the transport form for a fatty acid crossing the mitochondrial membrane.


intestinal phytosterol absorption

Any process in which phytosterols are taken up from the contents of the intestine.


extracellular amino acid transport

The directed extracellular movement of amino acids.


maltodextrin transmembrane transport

The directed movement of maltodextrin, any polysaccharide of glucose residues in beta-(1,4) linkage, across a membrane.


anterograde axonal transport of mitochondrion

The directed movement of mitochondria along microtubules in axons away from the cell body and towards the presynapse.


pantothenate import across plasma membrane

The directed movement of pantothenate from outside of a cell, across the plasma membrane and into the cytosol.