pulmonary coin lesion

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.


cryptogenic organizing pneumonia

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

Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.


pulmonary sulcus neoplasm

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.


surfactant metabolism dysfunction, pulmonary, 2


bronchus mucoepidermoid carcinoma

A mucoepidermoid carcinoma that involves the bronchus.


interstitial lung disease specific to infancy


hantavirus pulmonary syndrome

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


Langerhans cell histiocytosis in childhood and adulthood


well-differentiated fetal adenocarcinoma of the lung

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

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

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

A hemangioma that involves the lung.


interstitial emphysema

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


primary interstitial lung disease in childhood and adulthood


lung occult adenocarcinoma

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


isolated pulmonary capillaritis

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


cytomegalovirus pneumonia due to NOS2 deficiency

Cytomegalovirus pneumonia due to variant in the NOS2 gene.


restrictive pulmonary disease

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


surfactant metabolism dysfunction, pulmonary, 5

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


idiopathic chronic eosinophilic pneumonia

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


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


papillary lung adenocarcinoma

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


Caplan syndrome

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


pulmonary systemic sclerosis

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


lung leiomyosarcoma

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


drug or radiation exposure-related interstitial lung disease


pulmonary blastoma

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


familial hypocalciuric hypercalcemia 1

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


Lane Hamilton syndrome

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


eosinophilic granuloma

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


anthracosilicosis

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


lung sarcomatoid carcinoma

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


chronic respiratory distress with surfactant metabolism deficiency


pleuropulmonary blastoma type 1

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


lung pleomorphic carcinoma

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


lung giant cell carcinoma

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


congenital lobar emphysema

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


shrinking lung syndrome

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


lung adenoid cystic carcinoma

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


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

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


solid adenocarcinoma with mucin production


sick building syndrome

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


interstitial lung disease specific to childhood

A interstitial lung disease that occurs during childhood.


combined pulmonary fibrosis-emphysema syndrome


bronchopneumonia

Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.


combined lung carcinoma

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


familial hypocalciuric hypercalcemia 2

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


secondary interstitial lung disease in childhood and adulthood


interstitial lung disease due to SP-C deficiency


lung germ cell tumor

A germ cell tumor that arises from the lung.


middle lobe syndrome

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


anaerobic pneumonia

A pneumonia caused by anaerobic bacteria.


lung meningioma

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


neonatal aspiration syndrome

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


bronchiectasis with or without elevated sweat chloride 3

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


pulmonary alveolar microlithiasis

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


severe early-onset pulmonary alveolar proteinosis due to MARS deficiency


lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

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


pulmonary plasma cell granuloma

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


lung hilum cancer

A malignant neoplasm involving the lung hilus.


lung sarcoma

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


lung carcinoma in situ

A carcinoma in situ involving a lung.


silicosis

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


interstitial lung disease due to ABCA3 deficiency

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


postinfectious bronchiolitis obliterans

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


tuberculous fibrosis of lung

Scarring of the lung parenchyma caused by pulmonary tuberculosis.


acute respiratory distress syndrome

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


bronchus carcinoma in situ

A carcinoma in situ involving a bronchus.


lipid pneumonia

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


lung superior sulcus carcinoma

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


lung adenoma

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


desquamative interstitial pneumonia

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


follicular bronchiolits

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


idiopathic interstitial pneumonia

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


Graham-Boyle-Troxell syndrome

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


bronchiolocentric pattern of interstitial pneumonia

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


malignant glomus tumor

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


pericytic neoplasm

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


adult malignant hemangiopericytoma

A malignant hemangiopericytoma occurring in the adult population.


breast hemangiopericytoma

A hemangiopericytoma arising from the breast.


skin glomus tumor

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


hemangiopericytoma

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


cutaneous glomangioma

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


hemangiopericytoma, malignant

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


hemangiopericytoma of skin

A hemangiopericytoma that involves the zone of skin.


myofibroma

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


infantile myofibromatosis

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


heart malignant hemangiopericytoma

A malignant hemangiopericytoma arising in the heart.


glomus tumor

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


myopericytoma

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


cutaneous glomangiomyoma

A glomangiomyoma that involves the zone of skin.


Pericytoma with t(7;12)

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


telangiectatic glomangioma

A glomus tumor characterized by huge vascular channel formations.


angioleiomyoma

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


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


subungual glomus tumor

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


kidney hemangiopericytoma

A hemangiopericytoma arising from the kidney.


glomangiomatosis

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


glomangioma

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


adult intracranial malignant hemangiopericytoma

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


myofibromatosis, infantile, 2

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


meninges hemangiopericytoma

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


retroperitoneal hemangiopericytoma

A benign or malignant hemangiopericytoma arising from the retroperitoneum.


glomangiomyoma

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


myofibromatosis, infantile, 1

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


hemangiopericytic tumor

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


childhood malignant hemangiopericytoma

A malignant hemangiopericytoma occurring in childhood.


A malignant hemangiopericytoma arising in the mediastinum.


intravascular angioleiomyoma

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


benign perivascular tumor

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


Grade 5 Visceral Artery Injury, CTCAE

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon


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

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.


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

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


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

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.


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

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.


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

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


Blood pressure substantially higher in legs than arms

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


brachydactyly type A1

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


prostate-specific antigen N-glycosylated 5 (human)

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.


vaginismus

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

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


dermatoleukodystrophy

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


mitochondrial complex 1 deficiency, nuclear type 28


esophageal small cell neuroendocrine carcinoma

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


polyglucosan body myopathy 1 with or without immunodeficiency

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


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


myopathy caused by variation in FKTN

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


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

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


autosomal recessive limb-girdle muscular dystrophy type 2M

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


NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform h1 (human)

An NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial (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:O75251-1.


NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial

A protein that is a translation product of the human NDUFS7 gene or a 1:1 ortholog thereof.


NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial, transit peptide removed form (human)

An NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial (human) that has had the transit peptide removed. UniProtKB:O75251, 39-213.


NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform h2 (human)

An NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial (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:O75251-2.


isolated thyroid-stimulating hormone deficiency

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


Compensated hypothyroidism

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


central congenital hypothyroidism

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


Primary hypothyroidism

A type of hypothyroidism that results from a defect in the thyroid gland.


isolated thyrotropin-releasing hormone deficiency

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


The (R)-enantiomer of amfepramone.


breast leiomyoma

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


Grade 2 Fibrosis Deep Connective Tissue, CTCAE

Moderate induration, able to slide skin, unable to pinch skin; limiting instrumental ADL


Platinum-Sensitive Endometrial Serous Adenocarcinoma

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


Demyelinating sensory neuropathy

Demyelination of peripheral sensory nerves.


Ampulla of Vater Tubulovillous Adenoma

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


tyrosine-protein kinase SYK isoform Long (human)

A tyrosine-protein kinase SYK isoform 1 that is encoded in the genome of human.


Bracket epiphysis of the proximal phalanx of the 3rd toe


Schinzel-Giedion syndrome

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


tubulopapillary adenoma of extrahepatic bile duct

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


Progressive congenital scoliosis

A progressive form of scoliosis with congenital onset.


interleukin-23 subunit alpha, signal peptide removed form (human)

An interleukin-23 subunit alpha, signal peptide removed form in human. UniProtKB:Q9NPF7, 20-189.


periodic fever syndrome

Fevers of unknown etiology recurring over months or years.


Quotidian fever

Fever that occurs at daily intervals.


serine protease 1, signal peptide removed form (human)

A serine protease 1 (human) that has had the signal peptide removed. UniProtKB:P07477, 16-247.


Umbilical Hernia with Obstruction without Mention of Gangrene

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


Pulmonary myxoid sarcoma with EWSR1-CREB1 translocation

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


lymphoepithelioma-like acinar prostate adenocarcinoma

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


calcium/calmodulin-dependent protein kinase type II subunit gamma isoform h2 (human)

A calcium/calmodulin-dependent protein kinase type II subunit gamma (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:Q13555-2.


Ventricular myxoma

A cardiac myxoma arising from the ventricle.


myxoma

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


Cutaneous myxoma

A myxoma originating in the skin.


Intramuscular Myxoma

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


Atrial myxoma

A cardiac myxoma arising from the atrium.


Ovarian Myxoma

A myxoma arising from the ovary.


Myxoma of the Endocardium

A myxoma arising from the endocardium.


Right atrial myxoma

A cardiac myxoma arising from the right atrium.


Conjunctival Myxoma

A rare myxoma arising from the bulbar conjunctiva.


Juxta-Articular Myxoma

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


Follicular Myxoma

A cutaneous myxoma arising from the hair follicle.


Left atrial myxoma

A cardiac myxoma arising from the left atrium.


Cellular Myxoma

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


Grade 4 Leukoencephalopathy, CTCAE

Life-threatening consequences; extensive T2/FLAIR hyperintensities, involving periventricular white matter involving most of susceptible areas of cerebrum +/- moderate to severe increase in SAS and/or moderate to severe ventriculomegaly


neurofibroma of spinal cord

A neurofibroma that arises from the spinal cord.


adult pure red cell aplasia

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


transient erythroblastopenia of childhood

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


Abnormal coronary artery physiology

Any anomaly of the function of a coronary artery.


Anti-U3 RNP antibody positivity

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


Grade 4 Urinary Fistula, CTCAE

Life-threatening consequences; urgent invasive intervention indicated


Grade 3 Paresthesia, CTCAE

Severe symptoms; limiting self care ADL


dense deposit disease

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


Membranoproliferative Glomerulonephritis Type 3 (AQ)

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


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


Locally Advanced Lung Small Cell Carcinoma

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


large B-cell diffuse lymphoma of lacrimal gland

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


intellectual disability, autosomal dominant 39

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


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


catechol O-methyltransferase isoform Soluble (rat)

A catechol O-methyltransferase (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:P22734-2.


dextrocardia

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


(+)-Sulpiride

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


organic anion

Any organic ion with a net negative charge.


Pyridoxal 5'-phosphate(2-)

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


Salicylate

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


Pyridoxamine 5'-phosphate(1-)

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


L-asparaginate

An optically active form of asparaginate having L-configuration.


alpha-amino-acid anion

An amino-acid anion obtained by deprotonation of any alpha-amino acid.


Carbamate

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


carboxylic acid anion

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


Thiamine(1+) triphosphate(4-)

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


Dianion of pyridoxine 5'-phosphate.


Thiamin diphosphate

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


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


Monophosphothiamine

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


Bone marrow vacuolated lymphocytes

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


Megakaryocyte dysplasia

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


Increased megakaryocyte colony forming unit count

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


Abnormal granulocytopoietic cell morphology

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


Abnormality of multiple cell lineages in the bone marrow


Myeloid maturation arrest

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


Myelokathexis

Impaired egress of mature neutrophils from bone marrow causing neutropenia.


Megaloblastic bone marrow

Abnormal increased number of megaloblasts in the bone marrow.


Bone marrow arrest at the promyelocytic stage

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


Increased megakaryocyte count

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


Granulocytic hypoplasia

Decreased number of granulocyte precursors in the bone marrow.


Increased micromegakaryocyte count

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


Megakaryocyte nucleus hypolobulation

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


Bone marrow maturation arrest

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


Abnormal megakaryocyte morphology

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


Abnormality of bone marrow stromal cells


Reduced bone-marrow pro-B cell count

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


Megakaryocyte nucleus hyperlobulation

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


Abnormal number of granulocyte precursors


Bone marrow xanthomatosis

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


Bone marrow hypercellularity

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


Reduced bone-marrow megakaryocyte size

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


Megakaryocytopenia

A reduced count of megakaryocytes.


Increased bone marrow iron

An increased amount of iron in the bone marrow.


Increased multinucleated megakaryocyte count

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


5'-AMP-activated protein kinase catalytic subunit alpha-2 unphosphorylated 1 (human)

A 5'-AMP-activated protein kinase catalytic subunit alpha-2 unphosphorylated 1 in human. UniProtKB:P54646, Thr-172, PR:000026291.


[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform h2 (human)

A [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial (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:Q15118-2.


conjunctival vascular disorder

A disorder of the vasculature of the cornea.


Fatty casts

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


infiltrating bladder urothelial carcinoma sarcomatoid variant

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


infiltrating bladder urothelial carcinoma

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


lymphoma-like variant infiltrating bladder urothelial carcinoma

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


plasmacytoid variant infiltrating bladder urothelial carcinoma

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


microcystic variant infiltrating bladder urothelial carcinoma

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


infiltrating bladder urothelial carcinoma, clear cell variant

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


nested variant infiltrating bladder urothelial carcinoma

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


micropapillary variant infiltrating bladder urothelial carcinoma

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


infiltrating bladder lymphoepithelioma-like carcinoma

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


lipid-cell variant infiltrating bladder urothelial carcinoma

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


Cardiovascular System Signs and Symptoms


Venous Hum

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


Innocent Pulmonary Systolic Murmur

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


Innocent Murmur

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


Physiologic Pulmonary Artery Stenosis Murmur

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


Stable angina

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


Pathologic Murmur

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


Still's Murmur

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


Cardiovascular Manifestation

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


Atypical angina

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


Mammary Souffle

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


Libman-Sacks endocarditis

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


marantic endocarditis

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


subacute bacterial endocarditis

Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.


polyp of sphenoidal sinus

A polyp that involves the sphenoidal sinus.


cytokine receptor common subunit gamma, signal peptide removed form (human)

A cytokine receptor common subunit gamma (human) that has had the signal peptide removed. UniProtKB:P31785, 23-369.


Limited neck extension

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


Stiff neck

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


Nuchal rigidity

Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.


Limited neck flexion

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


Limited head rotation

Reduced range of motion turning the head side to side.


Limited lateral neck flexion

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


vitamin D-dependent rickets, type 1

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


Grade 3 Hearing Patients without Baseline Audiogram and Not Enrolled in a Monitoring Program, CTCAE


autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

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


Periodic hypokalemic paresis

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


periodic paralysis

Episodes of muscle weakness.


Grade 2 Biliary Tract Infection, CTCAE

Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)


hypotrichosis 3

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


acute hemorrhagic conjunctivitis

Acute conjunctivitis that is characterized by bleeding into the conjunctiva.


viral conjunctivitis

Conjunctivitis resulting from viral infection.


epidemic keratoconjunctivitis

Keratoconjunctivitis resulting from infection by adenoviruses.


Grade 5 Prostate Infection with Unknown Absolute Neutrophil Count, CTCAE


protein tyrosine phosphatase type IVA 3

A protein that is a translation product of the human PTP4A3 gene or a 1:1 ortholog thereof.


protein tyrosine phosphatase type IVA 3 isoform 1 (human)

A protein tyrosine phosphatase type IVA 3 isoform 1 that is encoded in the genome of human.


protein tyrosine phosphatase type IVA 3 isoform h2 (human)

A protein tyrosine phosphatase type IVA 3 (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:O75365-2.


protein tyrosine phosphatase type IVA 3 isoform h3 (human)

A protein tyrosine phosphatase type IVA 3 (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:O75365-3.


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

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


spindle cell sarcoma

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


spindle cell synovial sarcoma

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


intimal sarcoma

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


childhood spindle cell rhabdomyosarcoma

A spindle cell rhabdomyosarcoma occurring in children.


spindle cell rhabdomyosarcoma

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


intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements

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


spindle cell liposarcoma

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


Abnormality of the alveolar ridges

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


Alveolar process hypoplasia

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


Bilateral alveolar cleft of maxilla

Nonmidline alveolar cleft of the maxilla.


Complete cleft maxillary alveolar ridge

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


Incomplete cleft maxillary alveolar ridge

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


Fibrous syngnathia

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


Cleft maxillary alveolar ridge

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


Alveolar ridge overgrowth

Increased width of the alveolar ridges.


Unilateral alveolar cleft of maxilla

One sided alveolar cleft of the maxilla.


cervical fibroepithelial polyp

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


lathosterolosis

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


sterol biosynthesis disorder

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


desmosterolosis

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


Greenberg dysplasia

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


X-linked chondrodysplasia punctata 2

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


X-linked chondrodysplasia punctata

X-linked form of chondrodysplasia punctata.


CHILD syndrome

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


microcephaly-congenital cataract-psoriasiform dermatitis syndrome


X-linked chondrodysplasia punctata 1

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


Smith-Lemli-Opitz syndrome

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


cholesterol biosynthetic process disease

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


hyperimmunoglobulinemia D with periodic fever

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


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

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


xeroderma pigmentosum, autosomal dominant, mild


neuronopathy, distal hereditary motor, type 5A


T-lymphocyte activation antigen CD86 isoform h6 (human)

A T-lymphocyte activation antigen CD86 (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:P42081-6.


Pfeiffer syndrome type 3

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


Pfeiffer syndrome

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


Pfeiffer syndrome type 2

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


Pfeiffer syndrome type 1

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


Grade 4 Colon or Cecum or Appendix Fistula, CTCAE


3p- syndrome

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


partial deletion of the short arm of chromosome 3


3p25.3 microdeletion syndrome

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


Increased lymphocyte apoptosis

A elevation in the rate of apoptosis in lymphocytes.


Reduced CD95-induced lymphocyte apoptosis

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


Abnormal lymphocyte apoptosis

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


Decreased lymphocyte apoptosis

A reduction in the rate of apoptosis in lymphocytes.


Small intestinal lymphoplasmacytic infiltrate

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


Grade 2 Hypomagnesemia, CTCAE

<1.2-0.9 mg/dL; <0.5-0.4 mmol/L


severe X-linked mitochondrial encephalomyopathy

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


Heberden's node

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


hereditary multiple osteochondromas

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


bilateral acute depigmentation of the iris

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


nephrotic syndrome, type 12

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


Childhood Small Intestinal Carcinoma

A small intestinal carcinoma occurring in childhood.


Childhood Malignant Small Intestinal Neoplasm

A rare malignant small intestinal neoplasm that occurs during childhood.


Childhood Small Intestinal Leiomyosarcoma

A small intestinal leiomyosarcoma occurring in childhood.


Absence of subcutaneous fat

Lack of subcutaneous adipose tissue.


Loss of truncal subcutaneous adipose tissue

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


combined oxidative phosphorylation defect type 9

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


trifunctional purine biosynthetic protein adenosine-3 isoform Short (human)

A trifunctional purine biosynthetic protein adenosine-3 (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:P22102-2.


Hyperinsulinism in the Infant of a Diabetic Mother

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


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


Complete Hearing Loss

Total inability to hear sounds in one or both ears.


acinar prostate mucinous adenocarcinoma

A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.


Grade 5 Ureter Stricture or Stenosis, CTCAE


malignant struma ovarii

An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).


teratoma with malignant transformation

A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.


CAMOS syndrome

CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.


Increased proportion of exhausted T cells

An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.


NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3 (human)

An NADH dehydrogenase [ubiquinone] 1 subunit C2 (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:O95298-1.


NADH dehydrogenase [ubiquinone] 1 subunit C2

A protein that is a translation product of the human NDUFC2 gene or a 1:1 ortholog thereof.


NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 5 (human)

An NADH dehydrogenase [ubiquinone] 1 subunit C2 (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:O95298-3.


NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 4 (human)

An NADH dehydrogenase [ubiquinone] 1 subunit C2 (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:O95298-2.


sebaceous basal cell carcinoma

A basal cell carcinoma of the skin that is characterized by sebaceous differentiation.


DNA-directed RNA polymerase subunit beta

A protein that is a translation product of the Escherichia coli K-12 rpoB gene or a 1:1 ortholog thereof.


DNA-directed RNA polymerase subunit beta isoform 1 (Escherichia coli K-12)

A DNA-directed RNA polymerase subunit beta isoform 1 that is encoded in the genome of Escherichia coli K-12.


DNA-directed RNA polymerase subunit beta isoform 1 acetylated 1 (Escherichia coli K-12)

A DNA-directed RNA polymerase subunit beta isoform 1 acetylated 1 in Escherichia coli K-12. UniProtKB:P0A8V2-1, Lys-1022/Lys-1200, MOD:00064.


G protein-coupled receptor kinase 6 isoform GRK6A (human)

A G protein-coupled receptor kinase 6 isoform 1 that is encoded in the genome of human.


Mitral valve arcade

Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.


Mitral valve leaflet calcification

Deposition of calcium salts in the leaflets (cusps) of the mitral valve.


Cleft anterior mitral valve leaflet

Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.


Supramitral ring

A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.


Mitral annular calcification

Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.


Mitral chordae tendinae rupture

Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation.


Short chordae tendineae of the mitral valve

Abnormally short chordae tendineae of the mitral valve.


mitral atresia disorder

A congenital heart defect characterized by the complete atresia of the mitral valve.


Abnormal mitral valve annulus morphology

Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


Myxomatous mitral valve degeneration

Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.


congenital mitral stenosis

Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.


Abnormal mitral valve leaflet morphology

Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.


Abnormal morphology of the chordae tendinae of the mitral valve

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


Parachute mitral valve

Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.


Dilatation of the mitral annulus

An increase in the diameter of the ring (annulus) of the mitral valve.


Abnormal mitral valve morphology

Any structural anomaly of the mitral valve.


double-orifice mitral valve

The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.


Elongated chordae tendinae of the mitral valve

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


testicular seminoma

A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.


tubular variant testicular seminoma

A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.


pseudoglandular variant testicular seminoma

A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.


spermatocytic seminoma

A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.


cribriform variant testicular seminoma

A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.


Patchy sclerosis of the middle phalanx of the 4th finger

Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.


Sclerosis of the middle phalanx of the 4th finger


immunoglobulin heavy constant gamma 1 N-glycosylated 10 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G12580WI.


immunoglobulin heavy constant gamma 1

A protein that is a translation product of the human IGHG1 gene or a 1:1 ortholog thereof.


immunoglobulin heavy constant gamma 1 N-glycosylated 32 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G60923RB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G60923RB.


immunoglobulin heavy constant gamma 1 N-glycosylated 40 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G72791KH. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G72791KH.


immunoglobulin heavy constant gamma 1 N-glycosylated 48 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G85740DB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G85740DB.


immunoglobulin heavy constant gamma 1 N-glycosylated 30 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G59626AS.


immunoglobulin heavy constant gamma 1 N-glycosylated 47 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G85582CB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G85582CB.


immunoglobulin heavy constant gamma 1 N-glycosylated 51 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G90734RJ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G90734RJ.


immunoglobulin heavy constant gamma 1 N-glycosylated 5 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G08293MJ.


immunoglobulin heavy constant gamma 1 N-glycosylated 21 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G44953PJ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G44953PJ.


immunoglobulin heavy constant gamma 1 N-glycosylated 52 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G95865ZB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G95865ZB.


immunoglobulin heavy constant gamma 1 N-glycosylated 33 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G61855PQ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G61855PQ.


immunoglobulin heavy constant gamma 1 N-glycosylated 25 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G52162PS. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G52162PS.


immunoglobulin heavy constant gamma 1 N-glycosylated 17 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G35029YA. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G35029YA.


immunoglobulin heavy constant gamma 1 N-glycosylated 34 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G65184UU. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G65184UU.


immunoglobulin heavy constant gamma 1 N-glycosylated 14 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G25987BV. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G25987BV.


immunoglobulin heavy constant gamma 1 N-glycosylated 18 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G36191CD.


immunoglobulin heavy constant gamma 1 N-glycosylated 7 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G10339FR. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G10339FR.


immunoglobulin heavy constant gamma 1 N-glycosylated 6 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G09197ZW. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G09197ZW.


immunoglobulin heavy constant gamma 1 N-glycosylated 8 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G10486CT.


immunoglobulin heavy constant gamma 1 N-glycosylated 16 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G30159WR. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G30159WR.


immunoglobulin heavy constant gamma 1 N-glycosylated 44 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G83555HU.


immunoglobulin heavy constant gamma 1 N-glycosylated 35 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G72790NZ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G72790NZ.


immunoglobulin heavy constant gamma 1 N-glycosylated 13 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G25520XG. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G25520XG.


immunoglobulin heavy constant gamma 1 N-glycosylated 23 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G49955PK. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G49955PK.


immunoglobulin heavy constant gamma 1 N-glycosylated 50 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G88725PI. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G88725PI.


immunoglobulin heavy constant gamma 1 N-glycosylated 36 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G67324HN. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G67324HN.


immunoglobulin heavy constant gamma 1 N-glycosylated 37 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G68318VE. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G68318VE.


immunoglobulin heavy constant gamma 1 N-glycosylated 3 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G02886BB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G02886BB.


immunoglobulin heavy constant gamma 1 N-glycosylated 9 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G11254FL. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G11254FL.


immunoglobulin heavy constant gamma 1 N-glycosylated 31 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G59937CP. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G59937CP.


immunoglobulin heavy constant gamma 1 N-glycosylated 20 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G40834TG. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G40834TG.


immunoglobulin heavy constant gamma 1 N-glycosylated 11 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G22674CI. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G22674CI.


immunoglobulin heavy constant gamma 1 N-glycosylated 22 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G45504EY. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G45504EY.


immunoglobulin heavy constant gamma 1 N-glycosylated 28 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G57317CE.


immunoglobulin heavy constant gamma 1 N-glycosylated 46 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G83646BJ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G83646BJ.


immunoglobulin heavy constant gamma 1 N-glycosylated 24 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G50073PQ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G50073PQ.


immunoglobulin heavy constant gamma 1 N-glycosylated 43 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G80858MF. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G80858MF.


immunoglobulin heavy constant gamma 1 N-glycosylated 42 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G80475RE. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G80475RE.


immunoglobulin heavy constant gamma 1 N-glycosylated 49 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G88374WZ.


immunoglobulin heavy constant gamma 1 N-glycosylated 2 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G02815KT. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G02815KT.


immunoglobulin heavy constant gamma 1 N-glycosylated 27 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G72787SB. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G72787SB.


immunoglobulin heavy constant gamma 1 N-glycosylated 19 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G39213VZ. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G39213VZ.


immunoglobulin heavy constant gamma 1 N-glycosylated 15 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G28603RA. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G28603RA.


immunoglobulin heavy constant gamma 1 N-glycosylated 4 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G57776ZU. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G57776ZU.


immunoglobulin heavy constant gamma 1 N-glycosylated 1 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G00912UN.


immunoglobulin heavy constant gamma 1 N-glycosylated 45 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G83633GK. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G83633GK.


immunoglobulin heavy constant gamma 1 N-glycosylated 26 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G54600FO. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G54600FO.


immunoglobulin heavy constant gamma 1 N-glycosylated 41 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G78059CC.


immunoglobulin heavy constant gamma 1 N-glycosylated 12 (human)

An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-1, in which the glycan composition is represented by GlyTouCan:G25079LO. Example: UniProtKB:P01857-1, Asn-180, MOD:00160~GNO:G25079LO.


eIF-2-alpha kinase GCN2 isoform h1 (human)

An eIF-2-alpha kinase GCN2 (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:Q9P2K8-1.


sparse hair-short stature-skin anomalies syndrome

Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked.


Grade 5 Hematosalpinx, CTCAE

Death


bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 1 (human)

A bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 1 that is encoded in the genome of human.


serine/threonine-protein kinase Nek2 isoform h3 (human)

A serine/threonine-protein kinase Nek2 (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:P51955-3.


Orocutaneous fistula

An abnormal communication between the skin and the oral cavity.


Myeloblasts 20 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Blasts 10 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 10 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 20 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 60 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 60 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts More than 60 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that more than 60 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts More than 20 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 20-30 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 20 and 30 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Lymphoblasts 20 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.


Blasts More than 10 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Myeloblasts 10 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


sodium- and chloride-dependent GABA transporter 1 isoform 1 (rat)

A sodium- and chloride-dependent GABA transporter 1 isoform 1 that is encoded in the genome of rat.


Segmental peripheral demyelination

A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.


Patchy demyelination of subcortical white matter

Patchy loss of myelin from nerve fibers in the central nervous system.


Symmetrical progressive peripheral demyelination

A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Diffuse demyelination of the cerebral white matter

A diffuse loss of myelin from nerve fibers in the central nervous system.


A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.


Symmetric peripheral demyelination

A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Asymmetric peripheral demyelination

Loss of myelin from peripheral nerves in a pattern that differs between right and left.


Spinal cord posterior columns myelin loss