name: hereditary persistence of fetal hemoglobin

description: The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.


name: CHD9N_HUMAN CHD9 neighbor protein (sprot)

description: A protein that is a translation product of the CHD9NB gene in human.


name: nuclear envelope integral membrane protein 2 isoform h1 (human)

description: A nuclear envelope integral membrane protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A6NFY4-1.


The dicarboxylate anion of (S)-2-hydroxymethylglutaric acid; mahor microspecies at pH 7.3.


name: respiratory distress syndrome in premature infants

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

description: Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.


familial hypocalciuric hypercalcemia

description: Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.


name: Rajab interstitial lung disease with brain calcifications 2


name: primary pulmonary diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.


name: pneumonia caused by pseudomonas aeruginosa infection

description: A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.


non-specific interstitial pneumonia

description: Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.


name: primary interstitial lung disease specific to childhood


lung sclerosing hemangioma

description: A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.


lung papilloma

description: A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.


silicotuberculosis

description: Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.


cork-handlers' disease

description: An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.


non-small cell squamous lung carcinoma

description: A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.


name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8


lung large cell carcinoma

description: A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.


mushroom workers' lung

description: An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.


acute interstitial pneumonia

description: Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.


ichthyosis prematurity syndrome

description: Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.


name: mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma

description: A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells.


pneumonic plague

description: A plague in which the bacteria have infected the lungs.


clear cell-sugar-tumor of the lung

description: A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.


pleuropulmonary blastoma type 2

description: A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course.


description: Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.


acute bronchiolitis

description: Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.


name: autoimmune pulmonary alveolar proteinosis

description: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).


name: pulmonary non-tuberculous mycobacterial infection


name: respiratory syncytial virus bronchiolitis

description: Bronciolitis caused by infection with respiratory syncytial virus.


name: large cell carcinoma with rhabdoid phenotype

description: A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells.


name: Langerhans cell histiocytosis specific to adulthood

description: Langerhans cell histiocytosis that occurs during adulthood.


toxic bronchiolitis

description: Bronchiolitis as a response to a toxic exposure.


staphylococcus aureus pneumonia

description: An pneumonia caused by infection with Staphylococcus aureus.


pulmonary interstitial glycogenosis

description: Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD).


name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7


name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2


name: acute fibrinous and organizing pneumonia

description: A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.


lung cancer

description: A malignant neoplasm involving the lung.


diffuse panbronchiolitis

description: Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis


combined small cell lung carcinoma

description: A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.


endobronchial leiomyoma

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


lung leiomyoma

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


description: A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.


Legionnaires' disease

description: A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.


dystrophic pulmonary ossification

description: A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform.


pneumonia caused by chlamydia

description: An pneumonia caused by infection with Chlamydia.


name: epithelial predominant pulmonary blastoma

description: A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma.


acinar lung adenocarcinoma

description: A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)


baritosis

description: A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.


lung hilum neoplasm

description: A benign or malignant neoplasm that arises from the hilar region of the lung.


invasive aspergillosis

description: An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.


fibroma of lung

description: A fibroma that involves the lung.


toxic bronchiolitis obliterans

description: Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles.


lung hilum carcinoma

description: A lung carcinoma arising from the hilum of the lung.


alveoli adenoma

description: A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative.


contagious pleuropneumonia

description: A pleuropneumonia of cattle and goats caused by species of mycoplasma.


chronic pneumonitis of infancy

description: Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD).


idiopathic bronchiectasis

description: Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).


basaloid large cell lung carcinoma

description: A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.


bronchus adenoma

description: A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.


Hermansky-Pudlak syndrome 4

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.


pleuropulmonary blastoma type 3

description: A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course.


classic pulmonary blastoma

description: A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.


pneumoconiosis due to talc

description: Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.


malignant superior sulcus neoplasm

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


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

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.


name: adult pulmonary Langerhans cell histiocytosis

description: Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions.


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.


acute respiratory failure

description: Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.


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 carcinoma

description: A carcinoma that arises from epithelial cells of the lung


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%.


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


recurrent pneumonia

description: Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.


malt worker's lung

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


name: surfactant metabolism dysfunction, pulmonary, 4


radiation pneumonitis

description: Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation.


lung lymphoma

description: A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.


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.


eosinophilic pneumonia

description: An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss.


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.


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.


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.


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.


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.


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.


squamous cell lung carcinoma

description: A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.


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.


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.


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.


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.


Klebsiella pneumonia

description: An pneumonia caused by infection with Klebsiella.


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


idiopathic acute eosinophilic pneumonia

description: Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.


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.


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.


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.


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.


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.


cytomegalovirus pneumonia

description: Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.


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.


D-octopine

The (1R)-1-carboxyethyl derivative of L-arginine. It is a metabolite released by plant tumours.


N-benzoyl-D-arginine

A member of the class of N-benzoyl-D-arginines that is D-arginine in which one of the hydrogens of attached to the alpha-amino group has been replaced by a benzoyl group.


N-benzoyl-D-arginines

Any D-arginine derivative in which at least one of the nitrogens has been benzoylated.


N-benzoyl-D-arginine 2-naphthylamide

An N-{1-[(naphthalen-2-yl)amino]-1-oxo-3-phenylpropan-2-yl}benzamide that is the amide obtained by formal condensation of the carboxy group of N-benzoyl-D-arginine with the amino group of 2-naphthylamine.


The 4-nitroanilide of N-benzoyl-D-arginine.


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.


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: unconventional myosin-Id isoform 1 (rat)

description: A myosin-Id isoform 1 that is encoded in the genome of rat.


(R)-3,5-bisphosphomevalonic acid

A carboxyalkyl phosphate that is mevalonic acid phosphorylated at positions 3 and 5.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A deaminated 1 (human)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A (human) that has been deaminated on the residue at the position equivalent to Asn-545 of the amino acid sequence represented by UniProtKB:P46977-1. Example: UniProtKB:P46977-1, Asn-545, MOD:00684.


Grade 5 Visceral Artery Injury, CTCAE

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


acid ceramidase isoform 1 (mouse)

An acid ceramidase isoform 1 that is encoded in the genome of mouse.


name: membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase isoform h2 (human)

description: A membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99640-2.


name: PMYT1_HUMAN Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase (sprot)

description: A membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase that is encoded in the genome of human.


name: membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase isoform 3 (human)

description: A membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase isoform 3 that is encoded in the genome of human.


name: membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase isoform h1 (human)

description: A membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99640-1.


name: membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase isoform h4 (human)

description: A membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99640-4.


name: membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase phosphorylated form (human)

description: A membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase (human) that includes at least one phosphorylated residue. UniProtKB:Q99640, MOD:00696.


name: lymphoid-specific helicase isoform h3 (human)

description: A lymphoid-specific helicase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NRZ9-3.


Other Pancytopenia

description: Evidence of other pancytopenia not specified elsewhere.


A cyclin-A that is a translation product of the human CCNA1 gene or a 1:1 ortholog thereof.


CCNA1_RAT Cyclin-A1 (sprot)

A cyclin-A1 that is encoded in the genome of rat.


cyclin-A1 isoform 1 (rat)

A cyclin-A1 isoform 3 that is encoded in the genome of rat.


CCNA1_MOUSE Cyclin-A1 (sprot)

A cyclin-A1 that is encoded in the genome of mouse.


cyclin-A1 isoform 1 (mouse)

A cyclin-A1 isoform 3 that is encoded in the genome of mouse.


cyclin-A1 ubiquitinated form (human)

A cyclin-A1 (human) that includes at least one ubiquitinated lysine. UniProtKB:P78396, MOD:01148.


cyclin-A1 isoform h1 (human)

A cyclin-A1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P78396-1.


CCNA1_HUMAN Cyclin-A1 (sprot)

A cyclin-A1 that is encoded in the genome of human.


cyclin-A1 isoform h2 (human)

A cyclin-A1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P78396-2.


cyclin-A1 isoform 3 (human)

A cyclin-A1 isoform 3 that is encoded in the genome of human.


cyclin-A1 cysteinylated 1 (human)

A cyclin-A1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-422 of the amino acid sequence represented by UniProtKB:P78396-1. Example: UniProtKB:P78396-1, Cys-422, MOD:00765.


cyclin-A1 isoform 3

A cyclin-A1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P78396-3 or a 1:1 ortholog thereof.


name: dynein regulatory complex subunit 2 isoform h2 (human)

description: A dynein regulatory complex subunit 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IXS2-2.


name: DRC2_HUMAN Dynein regulatory complex subunit 2 (sprot)

description: A dynein regulatory complex subunit 2 that is encoded in the genome of human.


name: dynein regulatory complex subunit 2 isoform h1 (human)

description: A dynein regulatory complex subunit 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IXS2-1.


name: CD019_HUMAN Uncharacterized protein C4orf19 (sprot)

description: An uncharacterized protein C4orf19 that is encoded in the genome of human.


name: membrane-spanning 4-domains subfamily A member 13 isoform h3 (human)

description: A membrane-spanning 4-domains subfamily A member 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5J8X5-3.


name: excitatory amino acid transporter 2 N-glycosylated 3 (rat)

description: An excitatory amino acid transporter 2 (rat) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P31596-1, in which the glycan composition is represented by GlyTouCan:G41126SR. Example: UniProtKB:P31596-1, Asn-205, MOD:00160~GNO:G41126SR.


name: YAM3_SCHPO Putative oxidoreductase C1F5.03c (sprot)

description: A protein that is a translation product of the SPAC1F5.03c gene in Schizosaccharomyces pombe 972h-.


name: Q2VEB4_MOUSE A-kinase anchoring protein alpha (trembl)

description: An A-kinase anchor protein 6 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2VEB4.


name: Blood pressure substantially higher in legs than arms

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.


name: KRT37_HUMAN Keratin, type I cuticular Ha7 (sprot)

description: A keratin, type I cuticular Ha7 that is encoded in the genome of human.


name: hedgehog-interacting protein, signal peptide removed form (human)

description: A hedgehog-interacting protein (human) that has had the signal peptide removed. UniProtKB:Q96QV1, 18-700.


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: inactive ADP-ribosyltransferase ARH2 isoform h1 (human)

description: An inactive ADP-ribosyltransferase ARH2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NDY3-1.


inactive ADP-ribosyltransferase ARH2

A protein that is a translation product of the human ADPRHL1 gene or a 1:1 ortholog thereof.


name: inactive ADP-ribosyltransferase ARH2 isoform 1 (mouse)

description: An inactive ADP-ribosyltransferase ARH2 isoform 1 that is encoded in the genome of mouse.


name: ARHL1_HUMAN Inactive ADP-ribosyltransferase ARH2 (sprot)

description: An inactive ADP-ribosyltransferase ARH2 that is encoded in the genome of human.


name: inactive ADP-ribosyltransferase ARH2 isoform 1

description: An inactive ADP-ribosyltransferase ARH2 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8BGK2-1 or a 1:1 ortholog thereof.


name: ARHL1_RAT Inactive ADP-ribosyltransferase ARH2 (sprot)

description: An inactive ADP-ribosyltransferase ARH2 that is encoded in the genome of rat.


name: inactive ADP-ribosyltransferase ARH2 isoform h2 (human)

description: An inactive ADP-ribosyltransferase ARH2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NDY3-2.


name: inactive ADP-ribosyltransferase ARH2 isoform 1 (rat)

description: An inactive ADP-ribosyltransferase ARH2 isoform 1 that is encoded in the genome of rat.


name: ARHL1_MOUSE Inactive ADP-ribosyltransferase ARH2 (sprot)

description: An inactive ADP-ribosyltransferase ARH2 that is encoded in the genome of mouse.


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.


YGGU_ECOLI UPF0235 protein YggU (sprot)

A UPF0235 protein YggU that is encoded in the genome of Escherichia coli K-12.


name: prostate-specific antigen N-glycosylated 5 (human)

description: A prostate-specific antigen (human) that has been N-glycosylated at the residue equivalent to Asn-69 of the amino acid sequence represented by UniProtKB:P07288-1, in which the glycan composition is represented by GlyTouCan:G03574QJ. Example: UniProtKB:P07288-1, Asn-69, MOD:00160~GNO:G03574QJ.


name: protein-L-histidine N-pros-methyltransferase methylated 1 (human)

description: A protein-L-histidine N-pros-methyltransferase (human) that has been methylated on the residue at the position equivalent to Cys-215 of the amino acid sequence represented by UniProtKB:Q9H1A3-1. Example: UniProtKB:Q9H1A3-1, Cys-215, MOD:00660.


vaginismus

description: Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.


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.


TRMT1-like protein isoform m4 (mouse)

A TRMT1-like protein (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A2RSY6-4.


WNT1_CHICK Protein Wnt-1 (sprot)

A proto-oncogene Wnt-1 that is encoded in the genome of chicken.


name: mitochondrial complex 1 deficiency, nuclear type 28


SYS_ECOLI Serine--tRNA ligase (sprot)

A serine--tRNA ligase that is encoded in the genome of Escherichia coli K-12.


name: NEP_I80A2 Nuclear export protein (sprot)

description: An influenzavirus nuclear export protein that is encoded in the genome of the H7N7 strain A/Seal/Massachusetts/1/1980.


name: platelet-derived growth factor receptor-like protein isoform 1 (human)

description: A platelet-derived growth factor receptor-like protein isoform 1 that is encoded in the genome of human.


name: PGFRL_HUMAN Platelet-derived growth factor receptor-like protein (sprot)

description: A platelet-derived growth factor receptor-like protein that is encoded in the genome of human.


name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform r2 (rat)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O08776-2.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 methylated 1 (human)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (human) that has been methylated on the residue at the position equivalent to Cys-477 of the amino acid sequence represented by UniProtKB:P04843. UniProtKB:P04843, Cys-477, MOD:00660.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1

description: A protein that is a translation product of the human RPN1 gene or a 1:1 ortholog thereof.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 deaminated 2 (human)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (human) that has been deaminated on the residue at the position equivalent to Gln-269 of the amino acid sequence represented by UniProtKB:P04843. UniProtKB:P04843, Gln-269, MOD:00685.


name: OST1_DICDI Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of Dictyostelium discoideum.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1, signal peptide removed form

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that has had the signal peptide removed.


name: OST1A_ARATH Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1A (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of Arabidopsis thaliana.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1, signal peptide removed form (human)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (human) that has had the signal peptide removed. UniProtKB:P04843, 24-607.


name: OST1_SCHPO Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: RPN1_MOUSE Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of mouse.


name: RPN1_RAT Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of rat.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 deaminated 1 (human)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (human) that has been deaminated on the residue at the position equivalent to Gln-211 of the amino acid sequence represented by UniProtKB:P04843. UniProtKB:P04843, Gln-211, MOD:00685.


name: OST1_YEAST Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of yeast.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 cysteinylated 1 (human)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-545 of the amino acid sequence represented by UniProtKB:P04843. UniProtKB:P04843, Cys-545, MOD:00765.


name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 deaminated 3 (human)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (human) that has been deaminated on the residue at the position equivalent to Asn-299 of the amino acid sequence represented by UniProtKB:P04843. UniProtKB:P04843, Asn-299, MOD:00684.


name: RPN1_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of human.


name: RPN1_CAEEL Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of worm.


An L-methionine derivative that is the ester obtained by formal condensation of the carboxy group of N-formyl-L-methionine with the 3'-hydroxy group of AMP.


name: Occlusion and Stenosis of Bilateral Posterior Cerebral Arteries

description: Evidence of occlusion and stenosis of bilateral posterior cerebral arteries.


A 1,2-diacyl-sn-glycerol 3-phosphate in which the acyl substituents at positions 1 and 2 are specified as oleoyl and icosanoyl (arachidoyl) respectively.


1433T_RAT 14-3-3 protein theta (sprot)

A 14-3-3 protein theta that is encoded in the genome of rat.


14-3-3 protein theta isoform 1 (rat)

A 14-3-3 protein theta isoform 1 that is encoded in the genome of rat.


name: all-trans-retinol 13,14-reductase methylated 1 (human)

description: An all-trans-retinol 13,14-reductase (human) that has been methylated on the residue at the position equivalent to Cys-347 of the amino acid sequence represented by UniProtKB:Q6NUM9-1. Example: UniProtKB:Q6NUM9-1, Cys-347, MOD:00660.


name: PCLI1_HUMAN PTB-containing, cubilin and LRP1-interacting protein (sprot)

description: A PTB-containing, cubilin and LRP1-interacting protein that is encoded in the genome of human.


name: PTB-containing, cubilin and LRP1-interacting protein isoform h3 (human)

description: A PTB-containing, cubilin and LRP1-interacting protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z2X4-3.


name: PTB-containing, cubilin and LRP1-interacting protein isoform 4 (human)

description: A PTB-containing, cubilin and LRP1-interacting protein isoform 4 that is encoded in the genome of human.


name: PTB-containing, cubilin and LRP1-interacting protein isoform h1 (human)

description: A PTB-containing, cubilin and LRP1-interacting protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z2X4-1.


name: PTB-containing, cubilin and LRP1-interacting protein isoform h2 (human)

description: A PTB-containing, cubilin and LRP1-interacting protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z2X4-2.


name: Ras-specific guanine nucleotide-releasing factor RalGPS2 isoform h3 (human)

description: A Ras-specific guanine nucleotide-releasing factor RalGPS2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86X27-3.


name: HDC_HUMAN Headcase protein homolog (sprot)

description: A headcase protein that is encoded in the genome of human.


name: headcase protein homolog deaminated 1 (human)

description: A headcase protein homolog (human) that has been deaminated on the residue at the position equivalent to Gln-342 of the amino acid sequence represented by UniProtKB:Q9UBI9. UniProtKB:Q9UBI9, Gln-342, MOD:00685.


A taxane diterpenoid that is taxusin substituted by a hydroxy group at position 2alpha.


name: POU domain, class 3, transcription factor 2 isoform hN-OCT 5A (human)

description: A POU domain, class 3, transcription factor 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20265-2.


name: POU domain, class 3, transcription factor 2

description: A protein that is a translation product of the human POU3F2 gene or a 1:1 ortholog thereof.


name: POU domain, class 3, transcription factor 2 isoform hN-OCT 3 (human)

description: A POU domain, class 3, transcription factor 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20265-1.


name: PO3F2_HUMAN POU domain, class 3, transcription factor 2 (sprot)

description: A POU domain, class 3, transcription factor 2 that is encoded in the genome of human.


name: POU domain, class 3, transcription factor 2 isoform hN-OCT 5B (human)

description: A POU domain, class 3, transcription factor 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20265-3.


name: PO3F2_RAT POU domain, class 3, transcription factor 2 (sprot)

description: A POU domain, class 3, transcription factor 2 that is encoded in the genome of rat.


name: PO3F2_DANRE POU domain, class 3, transcription factor 2 (sprot)

description: A POU domain, class 3, transcription factor 2 that is encoded in the genome of zebrafish.


name: PO3F2_MOUSE POU domain, class 3, transcription factor 2 (sprot)

description: A POU domain, class 3, transcription factor 2 that is encoded in the genome of mouse.


name: USB1_RAT U6 snRNA phosphodiesterase 1 (sprot)

description: A U6 snRNA phosphodiesterase that is encoded in the genome of rat.


name: Rho GTPase-activating protein 29 isoform m2 (mouse)

description: A Rho GTPase-activating protein 29 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CGF1-2.


name: RHG29_MOUSE Rho GTPase-activating protein 29 (sprot)

description: A Rho GTPase-activating protein 29 that is encoded in the genome of mouse.


name: Rho GTPase-activating protein 29 isoform m1 (mouse)

description: A Rho GTPase-activating protein 29 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CGF1-1.


name: testis-specific serine/threonine-protein kinase 3 isoform 1 (human)

description: A testis-specific serine/threonine-protein kinase 3 isoform 1 that is encoded in the genome of human.


name: YIPL1_ARATH Protein yippee-like At3g08990 (sprot)

description: A protein that is a translation product of the At3g08990 gene in Arabidopsis thaliana.


hephaestin isoform 1 (mouse)

A hephaestin isoform 1 that is encoded in the genome of mouse.


HEPH_MOUSE Hephaestin (sprot)

A hephaestin that is encoded in the genome of mouse.


hephaestin isoform m2 (mouse)

A hephaestin (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Z0Z4-2.


name: heterogeneous nuclear ribonucleoproteins A2/B1 isoform rB1b (rat)

description: A heterogeneous nuclear ribonucleoproteins A2/B1 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A7VJC2-4.


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: Arf-GAP with ANK repeat and PH domain-containing protein cnt-1 isoform a (worm)

description: An Arf-GAP with ANK repeat and PH domain-containing protein cnt-1 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9XXH8-1.


name: CNT1_CAEEL Arf-GAP with ANK repeat and PH domain-containing protein cnt-1 (sprot)

description: A protein that is a translation product of the cnt-1 gene in worm.


name: Arf-GAP with ANK repeat and PH domain-containing protein cnt-1 isoform b (worm)

description: An Arf-GAP with ANK repeat and PH domain-containing protein cnt-1 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9XXH8-2.


name: MU190_SCHPO Meiotically up-regulated gene 190 protein (sprot)

description: A protein that is a translation product of the mug190 gene in Schizosaccharomyces pombe 972h-.


pneumococcal C-polysaccharide

A polysaccharide phosphate composed of a backbone of tetrasaccharide-ribitol repeating units that are linked to each other by a phosphodiester linkage between position 5 of a D-ribitol residue and position 6 of a beta-D-glucopyranosyl residue.


name: serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform 1 (human)

description: A serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform 1 that is encoded in the genome of human.


name: serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform 1

description: A serine/threonine-protein phosphatase PP1-alpha catalytic subunit that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P62136-1 or a 1:1 ortholog thereof.


name: serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform 1 (mouse)

description: A serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform 1 that is encoded in the genome of mouse.


name: serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform 1 (rat)

description: A serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform 1 that is encoded in the genome of rat.


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: adenine DNA glycosylase isoform hGamma-3 sequence variant P377L (human)

description: An adenine DNA glycosylase isoform hGamma-3 (human) that has a Leu residue at the position equivalent to Pro-377 of the amino acid sequence represented by UniProtKB:Q9UIF7-6. UniProtKB:Q9UIF7-6, Pro-377, CHEBI:30006.


name: ADP-ribosylation factor GTPase-activating protein 1 isoform h2 (human)

description: An ADP-ribosylation factor GTPase-activating protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N6T3-2.


name: canine thyroid gland medullary carcinoma

description: Thyroid gland medullary carcinoma occurring in a dog.


name: ubiquitin carboxyl-terminal hydrolase 51 cysteinylated 1 (human)

description: A ubiquitin carboxyl-terminal hydrolase 51 (human) that has been cysteinylated on the residue at the position equivalent to Cys-593 of the amino acid sequence represented by UniProtKB:Q70EK9. UniProtKB:Q70EK9, Cys-593, MOD:00765.


arginine derivative

An amino acid derivative resulting from reaction of arginine at the amino group, the carboxy group, or the guanidyl group, or from the replacement of any hydrogen of arginine by a heteroatom. The definition normally excludes peptides containing arginine residues.


tilarginine

A L-arginine derivative with a N(omega)-methyl substituent.


N-acyl-L-arginine

An N-acyl-L-amino acid that is L-arginine in which one of the hydrogens attached to the nitrogen is replaced by any acyl group.


L-arginine ester

Any ester of L-arginine or its derivatives.


An N-acyl-L-arginine resulting from the formal condensation of the alpha-amino group of L-arginine with one of the carboxy groups of succinic acid


An L-alpha-amino acid obtained by enzyme-mediated intramolecular cyclisation of L-arginine.


argpyrimidine

A member of the class of hydroxypyrimidines obtained by cyclocondensation of L-arginine and methylglyoxal; a methyl glyoxal-derived advanced glycation end-product (AGE) in familial amyloidotic polyneuropathy and human cancers.


L-arginine derivative

A proteinogenic amino acid derivative resulting from reaction of L-arginine at the amino group, the carboxy group, or the guanidyl group, or from the replacement of any hydrogen of L-arginine by a heteroatom.


An alpha-amino-acid cation obtained by deprotonation of the carboxy group and protonation of the amino and guanidino groups of (4S)-4-hydroxy-L-arginine; major microspecies at pH 7.3.


An L-arginyl ester obtained by formal condensation of the carboxy group of L-arginine with the 3'-hydroxy group of AMP.


A member of the class of N-(2-naphthyl)carboxamides that is 5-carbamimidamido-N-(naphthalen-2-yl)pentanamide in which one of the hydrogens at position 2 has been replaced by a benzamido group.


L-arginine amide

An amino acid amide resulting from the formal condensation of the carboxy group of L-arginine with ammonia.


An N(5)-[amino(hydroxyimino)methyl]-L-ornithine in which the double bond has Z-configuration.


A non-proteinogenic L-alpha-amino acid that is L-serine substituted at position 3 by a 2-iminoimidazolidin-4-yl group.


dimethylarginine

An arginine derivative that is arginine substituted by two methyl groups. A "closed" class.


A non-proteinogenic L-alpha-amino acid that is L-arginine substituted by  a methyl group at N(5)-position.


An L-arginine derivative in which the omega-nitrogen atoms carries a hydroxy group and one of the omega-nitrogen atoms carries a methyl group; major species at pH 7.3.


N-benzoyl-L-arginine 2-naphthylamide

An N-{1-[(naphthalen-2-yl)amino]-1-oxo-3-phenylpropan-2-yl}benzamide that is the amide obtained by formal condensation of the carboxy group of N-benzoyl-L-arginine with the amino group of 2-naphthylamine.


A hydroxy-L-arginine that is L-arginine substituted by a hydroxy group at position 5.


N(omega)-phospho-L-arginine

An arginine derivative that is L-arginine substituted by a phosphono group at N(omega)-position.


hydroxy-L-arginine

A hydroxy-amino acid that is L-arginine substituted by at least one hydroxy group.


L-arginine hydroxamate

An arginine derivative obtained by formal condensation of the carboxy group of L-arginine with the amino group of hydroxylamine.


alpha-N-substituted L-arginine

An L-arginine derivative that is L-arginine in which one of the hydrogens attached to the alpha-nitrogen has replaced by another atom or group.


L-NNA

An L-arginine derivative that is L-arginine in which the terminal nitrogen of the guanidyl group is replaced by a nitro group.


A fluoroindole that is 1H-indole substituted by phenyl, 4-{[(2S)-5-carbamimidamido-1-methoxy-1-oxopentan-2-yl]amino}-4-oxobutyl, fluoro and fluoro groups at positions 2, 3, 5 and 7, respectively. It is a selective nonpeptidic agonist of the somatostatin subtype-4 (SST4) receptor with Ki of 0.7 nM.


N-benzoyl-L-arginine

An N-acyl-L-arginine that is L-arginine in which one of the hydrogens attached to the alpha-amino group has been replaced by a benzoyl group.


L-arginyl-AMP

A purine ribonucleoside 5'-monophosphate that is adenosine 5'-monophosphate in which one of the hydroxy groups of the phosphate has been condensed with the carboxylic acid group of L-arginine.


SDMA

A  L-arginine derivative having two methyl groups at the N(omega)- and N'(omega)-positions


D-nopaline

An amino acid opine resulting from the formal reductive condensation of the amino group of L-arginine with the keto group of 2-oxopentanedioic acid.


L-arginine 2-naphthylamide

An L-arginine derivative that is the amide obtained by formal condensation of the carboxy group of L-arginine with the amino group of 2-naphthylamine.


METHYL P-TOLUENESULFONYL-L-ARGININATE

An L-arginine ester that is methyl L-argininate in which one of the hydrogens attached to the alpha-nitrogen is substituted by a tosyl group.


A hydroxy-L-arginine in which the hydroxy group is located at position 3 (the 3S-diastereomer).


An acyl-CoA(4-) species arising from deprotonation of the phosphate and diphosphate OH groups of decanoyl-CoA.


name: WD repeat-containing protein 89 isoform 1 (mouse)

description: A WD repeat-containing protein 89 isoform 1 that is encoded in the genome of mouse.


WD repeat-containing protein 89

A protein that is a translation product of the human WDR89 gene or a 1:1 ortholog thereof.


name: WDR89_DICDI WD repeat-containing protein 89 homolog (sprot)

description: A WD repeat-containing protein 89 that is encoded in the genome of Dictyostelium discoideum.


name: WD repeat-containing protein 89 isoform 1

description: A WD repeat-containing protein 89 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9D0R9-1 or a 1:1 ortholog thereof.


name: WDR89_MOUSE WD repeat-containing protein 89 (sprot)

description: A WD repeat-containing protein 89 that is encoded in the genome of mouse.


name: WD repeat-containing protein 89 isoform 1 (rat)

description: A WD repeat-containing protein 89 isoform 1 that is encoded in the genome of rat.


name: WDR89_RAT WD repeat-containing protein 89 (sprot)

description: A WD repeat-containing protein 89 that is encoded in the genome of rat.


name: YCJ6_SCHPO Uncharacterized WD repeat-containing protein C63.06 (sprot)

description: A WD repeat-containing protein 89 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: GTS1_ARATH WD repeat-containing protein GTS1 (sprot)

description: A WD repeat-containing protein 89 that is encoded in the genome of Arabidopsis thaliana.


name: WDR89_HUMAN WD repeat-containing protein 89 (sprot)

description: A WD repeat-containing protein 89 that is encoded in the genome of human.