lung neuroendocrine neoplasm

description: A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.


aspiration pneumonitis

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Inflammation of the lungs due to the inhalation of solid or liquid material.


name: pulmonary large cell neuroendocrine carcinoma

description: A large cell neuroendocrine carcinoma that involves the lung(s).


name: congenital emphysematous lung disease due to Filamin A loss-of-function variant

description: Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.


pulmonary mucoepidermoid carcinoma

description: A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.


asbestos-related lung carcinoma

description: A carcinoma arising in the lung due to exposure to asbestos.


name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

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


diffuse pulmonary fibrosis

description: Diffuse replacement of the lung tissue by connective tissue.


hamartoma of lung

description: A hamartoma (disease) that involves the lung.


pulmonary hemosiderosis

description: A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.


name: lung mixed small cell and squamous cell carcinoma

description: A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.


kaolin pneumoconiosis

description: Pneumoconiosis caused by inhalation of kaolin dust.


name: respiratory bronchiolitis-interstitial lung disease syndrome

description: Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.


name: pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

description: Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.


name: persistent tachypnoe of infancy, aberrant

description: Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%).


name: bronchiectasis with or without elevated sweat chloride 2

description: Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.


vanishing lung syndrome

description: A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae.


bronchogenic carcinoma

description: A lung carcinoma arising from the bronchial epithelium.


farmer's lung disease

description: Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs.


cellular interstitial pneumonitis

description: An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring.


lung PEComa

description: A lung tumor that arises from perivascular epithelioid cells (PECs).


name: hereditary pulmonary alveolar proteinosis

description: Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.


rheumatoid lung disease

description: Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis.


adiaspiromycosis

description: Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).


Niemann-Pick disease type B

description: Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea


hyperlucent lung

description: A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax.


occult small cell lung carcinoma

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


name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

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


anthracosis

description: A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners.


lung colloid adenocarcinoma

description: A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.


lung occult squamous cell carcinoma

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


persistent tachypnoe of infancy

description: A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%.


chronic beryllium disease

description: Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.


Mac-Leod-Swyer-James-Syndrome

description: A rare lung condition characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality.


graphite pneumoconiosis

description: A disorder associated with chronic exposure to inhaled dust from crystallized carbon.


name: neuroendocrine cell hyperplasia of infancy

description: Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.


name: pediatric acute respiratory distress syndrome

description: Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.


secondary pulmonary hemosiderosis

description: Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography


pulmonary venoocclusive disease 2

description: A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.


name: interstitial lung disease specific to adulthood


malt worker's lung

description: An extrinsic allergic alveolitis caused by infection with Aspergillus.


name: surfactant metabolism dysfunction, pulmonary, 4


lung inflammatory myofibroblastic tumor

description: An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


rickettsial pneumonia

description: Pneumonia caused by infection with bacteria of the family rickettsiaceae.


lung non-Hodgkin lymphoma

description: A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.


description: A bronchiolo-alveolar adenocarcinoma that is characterized by a tumor cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.


lymphoepithelioma-like lung carcinoma

description: A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration.


name: pneumonia caused by gram negative bacteria


persistent tachypnoe of infancy, usual

description: Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%).


lung occult large cell carcinoma

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


name: bronchiectasis with or without elevated sweat chloride 1


lung adenocarcinoma in situ

description: A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.


occupational asthma

description: Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.


name: large cell lung carcinoma, clear cell variant

description: A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.


mixed mineral dust pneumoconiosis

description: Pneumoconiosis caused by the inhalation of mixed mineral dust particles.


name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 6


name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5


house allergic alveolitis

description: House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis.


name: surfactant metabolism dysfunction, pulmonary, 1

description: An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant.


congenital chylothorax

description: Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.


adenosquamous lung carcinoma

description: An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.


name: lung combined large cell neuroendocrine carcinoma

description: A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma.


toxic pneumonitis

description: A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gasses and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.


bird fancier's lung

description: Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis.


name: secondary pulmonary alveolar proteinosis

description: A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency.


byssinosis

description: An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week.


acute chest syndrome

description: A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.


silo filler disease

description: A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.


lung signet ring cell carcinoma

description: A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells.


fungal lung infectious disease

description: Pulmonary diseases caused by fungal infections, usually through hematogenous spread.


familial hypocalciuric hypercalcemia 3

description: Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.


localized pulmonary fibrosis

description: Replacement of the lung tissue by connective tissue in a specific area of the lung.


pleuropulmonary blastoma

description: A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.


meconium aspiration syndrome

description: A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.


lung benign neoplasm

description: A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma.


name: Rajab interstitial lung disease with brain calcifications


ventilation pneumonitis

description: An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.


lung mucous gland adenoma

description: A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.


slate pneumoconiosis

description: Pneumoconiosis caused by exposure to slate dust.


hypersensitivity pneumonitis, familial

description: An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.


pulmonary sarcoidosis

description: Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.


lymphoid interstitial pneumonia

description: Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.


name: hemosiderosis, pulmonary, with deficiency of gamma-a globulin


bagassosis

description: An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis.


high altitude pulmonary edema

description: A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.


name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9


Hermansky-Pudlak syndrome 1

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.


lung carcinoid tumor

description: A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.


name: lung combined type small cell adenocarcinoma

description: A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.


name: Rajab interstitial lung disease with brain calcifications 1


maple bark strippers' lung

description: A hypersensitivity pneumonitis associated with the inhalation of fungal spores of Cryptostroma corticale in workers stripping the bark from maple and sycamore logs affected by sooty bark disease.


pulmonary coin lesion

description: A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura.


pulmonary sulcus neoplasm

description: A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.


name: surfactant metabolism dysfunction, pulmonary, 2


bronchus mucoepidermoid carcinoma

description: A mucoepidermoid carcinoma that involves the bronchus.


acute lung injury

description: A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).


name: interstitial lung disease specific to infancy


hantavirus pulmonary syndrome

description: An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems.


lung lymphangioleiomyomatosis

description: Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.


name: well-differentiated fetal adenocarcinoma of the lung

description: Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.


Heiner syndrome

description: Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.


lung epithelial-myoepithelial carcinoma

description: A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative.


hemangioma of lung

description: A hemangioma that involves the lung.


interstitial emphysema

description: 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.


lung occult adenocarcinoma

description: 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

description: 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.


name: cytomegalovirus pneumonia due to NOS2 deficiency

description: Cytomegalovirus pneumonia due to variant in the NOS2 gene.


restrictive pulmonary disease

description: 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

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


name: surfactant metabolism dysfunction, pulmonary, 5

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


name: idiopathic chronic eosinophilic pneumonia

description: 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).


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


papillary lung adenocarcinoma

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


chronic eosinophilic pneumonia

description: 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

description: 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

description: Evidence of systemic sclerosis with lung involvement.


lung leiomyosarcoma

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


pneumonitis

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


name: drug or radiation exposure-related interstitial lung disease


pulmonary blastoma

description: 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

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


viral pneumonia

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


Lane Hamilton syndrome

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


anthracosilicosis

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


lung sarcomatoid carcinoma

description: 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.


name: chronic respiratory distress with surfactant metabolism deficiency


pleuropulmonary blastoma type 1

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


lung pleomorphic carcinoma

description: 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

description: 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

description: 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

description: 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

description: 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.


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

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


name: solid adenocarcinoma with mucin production


sick building syndrome

description: 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)


name: interstitial lung disease specific to childhood

description: A interstitial lung disease that occurs during childhood.


name: combined pulmonary fibrosis-emphysema syndrome


combined lung carcinoma

description: 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

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


name: interstitial lung disease due to SP-C deficiency


lung germ cell tumor

description: A germ cell tumor that arises from the lung.


middle lobe syndrome

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


anaerobic pneumonia

description: A pneumonia caused by anaerobic bacteria.


lung meningioma

description: 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

description: 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.


name: bronchiectasis with or without elevated sweat chloride 3

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


pulmonary alveolar microlithiasis

description: 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.


name: severe early-onset pulmonary alveolar proteinosis due to MARS deficiency


name: lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

description: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized 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

description: 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

description: A malignant neoplasm involving the lung hilus.


lung sarcoma

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


lung carcinoma in situ

description: A carcinoma in situ involving a lung.


silicosis

description: 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.


name: interstitial lung disease due to ABCA3 deficiency

description: 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

description: 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

description: Scarring of the lung parenchyma caused by pulmonary tuberculosis.


acute respiratory distress syndrome

description: 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

description: A carcinoma in situ involving a bronchus.


lipid pneumonia

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


lung superior sulcus carcinoma

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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.


name: alveolar capillary dysplasia with misalignment of pulmonary veins

description: A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.


lung abscess

description: 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.


name: bronchiolocentric pattern of interstitial pneumonia

description: 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

description: 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

description: 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

description: A malignant hemangiopericytoma occurring in the adult population.


breast hemangiopericytoma

description: A hemangiopericytoma arising from the breast.


skin glomus tumor

description: 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

description: 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

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


hemangiopericytoma, malignant

description: 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

description: A hemangiopericytoma that involves the zone of skin.


myofibroma

description: 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

description: 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

description: A malignant hemangiopericytoma arising in the heart.


glomus tumor

description: 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

description: 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

description: A glomangiomyoma that involves the zone of skin.


Pericytoma with t(7;12)

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


telangiectatic glomangioma

description: A glomus tumor characterized by huge vascular channel formations.


angioleiomyoma

description: 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.


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


subungual glomus tumor

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


kidney hemangiopericytoma

description: A hemangiopericytoma arising from the kidney.


glomangiomatosis

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


glomangioma

description: 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.


name: adult intracranial malignant hemangiopericytoma

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


myofibromatosis, infantile, 2

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


meninges hemangiopericytoma

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


retroperitoneal hemangiopericytoma

description: A benign or malignant hemangiopericytoma arising from the retroperitoneum.


glomangiomyoma

description: 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

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


hemangiopericytic tumor

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


childhood malignant hemangiopericytoma

description: A malignant hemangiopericytoma occurring in childhood.


description: A malignant hemangiopericytoma arising in the mediastinum.


intravascular angioleiomyoma

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


benign perivascular tumor

description: 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.


name: Blood pressure substantially higher in legs than arms

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: 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

description: 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.


name: Blasts Expressing T-Lymphoid and Megakaryocytic Markers Present

description: A finding indicating the presence of blasts with evidence of T-cell and megakaryocytic lineage assignment.


psychologic vaginismus

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


dermatoleukodystrophy

description: Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized 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.


name: mitochondrial complex 1 deficiency, nuclear type 28


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

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


name: esophageal small cell neuroendocrine carcinoma

description: 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.


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

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


name: effector-mediated suppression of host pattern-triggered immunity signaling

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

description: 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.


name: effector-mediated suppression of host innate immune response

description: 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.


name: effector-mediated suppression of host pattern-triggered immunity

description: 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.


category: biolink:CellularComponent biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

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


name: negative regulation of proline import across plasma membrane

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


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


name: positive regulation of myofibroblast cell apoptotic process

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


name: polyglucosan body myopathy 1 with or without immunodeficiency

description: 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.


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


myopathy caused by variation in FKTN

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


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

description: 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.


name: autosomal recessive limb-girdle muscular dystrophy type 2M

description: 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.


name: cyclic-GMP-AMP transmembrane import across plasma membrane

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


name: positive regulation of synoviocyte proliferation

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


name: positive regulation of type B pancreatic cell proliferation

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


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

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


name: positive regulation of vascular endothelial cell proliferation

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


name: positive regulation of cholangiocyte proliferation

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


name: positive regulation of thyroid gland epithelial cell proliferation

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


name: positive regulation of epithelial cell proliferation involved in lung bud dilation

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


name: positive regulation of acinar cell proliferation

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


name: positive regulation of urothelial cell proliferation

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


name: positive regulation of granulosa cell proliferation

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


name: isolated thyroid-stimulating hormone deficiency

description: 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

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


central congenital hypothyroidism

description: 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.


name: isolated thyrotropin-releasing hormone deficiency

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


glucosamine catabolic process

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


(R)-diethylpropion

The (R)-enantiomer of amfepramone.


name: structural constituent of ascospore wall

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


breast leiomyoma

description: 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.


name: Platinum-Sensitive Endometrial Serous Adenocarcinoma

description: An endometrial serous adenocarcinoma that has a documented response to platinum-based chemotherapy.


Ampulla of Vater Tubulovillous Adenoma

description: 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.


Demyelinating sensory neuropathy

description: Demyelination of peripheral sensory nerves.


name: negative regulation of phosphatidylserine biosynthetic process

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


name: regulation of phosphatidylserine biosynthetic process

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


name: positive regulation of phosphatidylserine biosynthetic process

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


name: estradiol 17-alpha-dehydrogenase [NAD(P)+] activity

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


name: testosterone dehydrogenase [NAD(P)+] activity

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


name: Bracket epiphysis of the proximal phalanx of the 3rd toe


Schinzel-Giedion syndrome

description: 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.


name: tubulopapillary adenoma of extrahepatic bile duct

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


Progressive congenital scoliosis

description: A progressive form of scoliosis with congenital onset.


7-methylguanosine catabolic process

description: 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

description: 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

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


guanosine catabolic process

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


name: congenital isolated adrenocorticotropic hormone deficiency

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


name: vestibular receptor cell stereocilium organization

description: 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

description: 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.


Periodic fever

description: Episodic fever that recurs at regular intervals.


Quotidian fever

description: Fever that occurs at daily intervals.


name: mating type region replication fork barrier binding

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


nuclear migration to embryo sac poles

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


name: mitogen-activated protein kinase kinase kinase kinase binding

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


protein histidine kinase binding

description: Binding to a protein histidine kinase.


protein serine/threonine kinase binding

description: Binding to a protein serine/threonine kinase.


name: efferent portion of pharyngeal arch artery

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

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


name: Umbilical Hernia with Obstruction without Mention of Gangrene

description: 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.


name: Pulmonary myxoid sarcoma with EWSR1-CREB1 translocation

description: 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.


name: lymphoepithelioma-like acinar prostate adenocarcinoma

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


Sinonasal Tract Myxoma

description: A rare, benign, non-odontogenic tumor that arises from the sinonasal tract and occurs almost exclusively in children younger than three years old. It is a hypocellular tumor composed of spindle, stellate, or round cells in a myxoid stroma.


myxoma

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


Ventricular myxoma

description: A cardiac myxoma arising from the ventricle.


Cutaneous myxoma

description: A myxoma originating in the skin.


Intramuscular Myxoma

description: 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

description: A cardiac myxoma arising from the atrium.


Ovarian Myxoma

description: A myxoma arising from the ovary.


Myxoma of the Endocardium

description: A myxoma arising from the endocardium.


Right atrial myxoma

description: A cardiac myxoma arising from the right atrium.


Conjunctival Myxoma

description: A rare myxoma arising from the bulbar conjunctiva.


Juxta-Articular Myxoma

description: 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

description: A cutaneous myxoma arising from the hair follicle.


Left atrial myxoma

description: A cardiac myxoma arising from the left atrium.


Cellular myxoma

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


viral inner membrane

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


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


neurofibroma of spinal cord

description: A neurofibroma that arises from the spinal cord.


adult pure red cell aplasia

description: 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.


name: transient erythroblastopenia of childhood

description: 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

description: Any anomaly of the function of a coronary artery.


Anti-U3 RNP antibody positivity

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


pericardial nephrocyte differentiation

description: 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.


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


name: phosphatidylinositol 5-phosphate biosynthetic process

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


name: negative regulation of aorta morphogenesis

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


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

description: 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.


name: positive regulation of pseudohyphal growth

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


smooth muscle endomysium

description: Reticular tissue which surrounds a smooth muscle cell.


dense deposit disease

description: 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.


name: Membranoproliferative Glomerulonephritis Type 3 (AQ)

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


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


name: Locally Advanced Lung Small Cell Carcinoma

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


name: large B-cell diffuse lymphoma of lacrimal gland

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


name: tolerance induction in nasopharyngeal-associated lymphoid tissue

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


name: intellectual disability, autosomal dominant 39

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


name: positive regulation of maltose transport

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


16alpha-hydroxy steroid

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


(+)-sulpiride

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


(-)-sulpiride

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).


dextrocardia

description: 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.


name: negative regulation of postsynaptic membrane organization

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


name: negative regulation of AMPA glutamate receptor clustering

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


name: positive regulation of AMPA glutamate receptor clustering

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


name: positive regulation of cellular alcohol catabolic process

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


name: positive regulation of ethanol catabolic process

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


name: positive regulation of propanediol catabolic process

description: Any process that activates or increases the frequency, rate or extent of propanediol 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.


salicylates

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.


pyridoxine 5'-phosphate(2-)

Dianion of pyridoxine 5'-phosphate.


thiamine(1+) diphosphate(3-)

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.


thiamine(1+) monophosphate(2-)

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

description: 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

description: 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.


name: immunoglobulin heavy chain V-D-J recombination

description: 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

description: 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

description: Receptor editing occurring in B cells in the bone marrow.


name: interleukin-4-dependent isotype switching to IgE isotypes

description: 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

description: 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

description: 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.


name: immunoglobulin light chain V-J recombination

description: 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

description: 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

description: Any disease of the bone marrow.


Increased HbA2 hemoglobin

description: An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.


Myelokathexis

description: Impaired egress of mature neutrophils from bone marrow causing neutropenia.


Absent platelet dense granules

description: Lack of platelet dense granules, a type of platelet organelles.


name: Increased proportion of CD25+ mast cells

description: An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).


Abnormal macrophage count

description: An anomaly in the number of macrophages.


name: Abnormal erythrocyte UDP glucose-4-epimerase concentration

description: An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Amegakaryocytic thrombocytopenia

description: Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.


name: fetal and neonatal alloimmune thrombocytopenia

description: Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.


Decreased hemoglobin concentration

description: An abnormal reduction below normal hemoglobin concentration in the circulation.


Increased Burr cell count

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


Hyperchromic macrocytic anemia

description: A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.


Abnormal neutrophil count

description: A deviation from the normal range of neutrophil cell counts in the circulation.


Low neutrophil alkaline phosphatase

description: An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.


Congenital thrombocytopenia

description: Thrombocytopenia with congenital onset.


Infection associated neutropenia

description: Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.


name: myelodysplastic syndrome with ring sideroblasts

description: Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS.


Increased circulating myelocyte count

description: The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1.


Anemia of inadequate production

description: A kind of anemia characterized by inadequate production of erythrocytes.


Reduction of neutrophil motility

description: An abnormal reduction of the cell motility of neutrophils.


Giant neutrophil granules

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


Transient neutropenia

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


name: Decreased erythrocyte UDP glucose-4-epimerase concentration

description: A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Abnormal hematocrit

description: Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.


Cold-induced hemolysis

description: A form of hemolytic anemia that can be triggered by cold temperatures.


hemoglobin H disease

description: Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).


Abnormal granulocyte morphology

description: Any structural abnormality or abnormal count of granulocytes.


Abnormal proerythroblast morphology

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


Abnormality of neutrophil physiology

description: A functional abnormality of neutrophils.


Megaloblastic erythroid hyperplasia

description: A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features.


Leukocyte inclusion bodies

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


hypochromic microcytic anemia

description: Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).


Hepatic granulomatosis

description: The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Diamond-Blackfan anemia

description: A congenital aregenerative and often macrocytic anemia with erythroblastopenia.


Hepatic mastocytosis

description: Liver mast cell infiltration.


Megaloblastic bone marrow

description: Abnormal increased number of megaloblasts in the bone marrow.


Chronic hemolytic anemia

description: An chronic form of hemolytic anemia.


Enlarged platelet dense granules

description: Increased size of platelet dense granules.


Abnormal basophil count

description: Any deviation from the normal number of basophils per volume in the blood circulation.


Abnormal dense granule content

description: A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.


Increased neutrophil ribosomes

description: An increased number of ribosomes detected in neutrophils.


name: Elevated erythrocyte inosine triphosphate concentration

description: Concentration of inosine triphosphate in red blood cells is above the upper limit of normal.


Bone marrow hypocellularity

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


Bone marrow monocytosis

description: Increased count of monocytes in the bone marrow.


Abnormal dense tubular system

description: An anomaly of the intracellular membrane complexes known as the dense tubular system.


Drug-induced agranulocytosis

description: A type of agranulocytosis related to ingestion of a specific medication.


description: A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.


Bone marrow vacuolated lymphocytes

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


Increased circulating band cell count

description: The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2.


Normochromic microcytic anemia

description: A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.


name: Reduced erythrocyte 2,3-diphosphoglycerate concentration

description: This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.


Abnormal number of erythroid precursors

description: A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


Reduced beta/alpha synthesis ratio

description: A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.


name: Bone marrow arrest at the promyelocytic stage

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


name: Abnormal erythrocyte enzyme concentration or activity

description: An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.


Increased megakaryocyte count

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


Reduced platelet alpha granules

description: A reduced number of platelet alpha granules.


Pyknotic bone marrow neutrophils

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


hereditary elliptocytosis

description: Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.


Cerebral granulomatosis

description: Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Increased micromegakaryocyte count

description: 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.


Exercise-induced hemolysis

description: A form of hemolytic anemia that can be triggered by exertion.


Reduced erythrocyte hexokinase activity

description: Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.


Multinucleated erythroblast

description: Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.


Granulocytic hypoplasia

description: Decreased number of granulocyte precursors in the bone marrow.


name: Impaired neutrophil killing of staphylococci

description: A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.


Abnormal dense granules

description: Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.


name: Abnormal platelet dense granule ATP/ADP ratio

description: Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.


Abnormal granulocyte count

description: Any deviation from the normal cell count per volume of granulocytes in the blood circulation.


Imbalanced hemoglobin synthesis

description: Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.


Blood group antigen abnormality

description: An abnormality of an erythrocyte cell surface molecule.


Impaired oxidative burst

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


Bite cells

description: Red blood cells that appear to have parts of them bitten away.


Neutrophil nuclear clefts

description: An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.


Absent neutrophil specific granules

description: Lack of specific granules in neutrophils.


name: Abnormal mean corpuscular hemoglobin concentration

description: A deviation 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.


Abnormal macrophage morphology

description: An abnormality of macrophages.


malakoplakia

description: Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.


Megakaryocyte dysplasia

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


Transient erythroblastopenia

description: A transient reduction in the number of erythroblasts in the circulation.


xanthogranuloma

description: A reactive lesion characterized by the presence of a bland histiocytic cellular infiltrate admixed with giant cells.


Abnormal myeloid cell morphology

description: Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.


Bone marrow erythroid vacuolization

description: Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.


Heinz bodies

description: A type of erythrocyte inclusion composed of denatured hemoglobin.


Eosinophil nuclear hypersegmentation

description: An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.


Microspherocytosis

description: The presence of erythrocytes that are sphere-shaped and reduced in size.


Anisopoikilocytosis

description: A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.


name: Hyposegmentation of neutrophil nuclei in CSF

description: Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.


name: Reduced erythrocyte bisphosphoglycerate mutase activity

description: Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity.


Episodic eosinophilia

description: Recurrent episodes of marked eosinophilia that resolve spontaneously.


cutaneous mastocytosis

description: Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.


description: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.


name: Reduced erythrocyte uroporphyrinogen III cosynthase activity

description: Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal.


Reduced platelet dense granules

description: Decreased number of platelet dense granules, a type of platelet organelle.


Episodic hemolytic anemia

description: A form of hemolytic anemia that occurs in repeated episodes.


name: Increased red cell hemolysis by shear stress


name: Abnormal erythrocyte adenosine deaminase activity

description: Activity of adenosine deaminase in red blood cells outside the limits of normal.


Decreased basophil count

description: An abnormally reduced count of basophils per volume in the blood circulation.


name: Elevated red cell pyruvate kinase activity

description: Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP.


name: Abnormal erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.


Bone marrow granuloma

description: A granuloma (a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus) localiyed to the bone marrow. A granuloma characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types.


Granulomatosis

description: A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.


Abnormal number of dense granules

description: A deviation from the normal count of dense granules per thrombocyte.


Neutrophilia in absence of infection

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


HbS hemoglobin

description: Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.


Abnormal alpha granule content

description: A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.