Lung squamous cell carcinoma stage III

Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Metastatic Lung Non-Small Cell Squamous Carcinoma

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

A squamous non-small cell carcinoma that arises from the lung and has metastasized to another anatomic site.


Metastatic malignant neoplasm to heart

A malignant neoplasm that has spread to the heart from another primary anatomic site.


Locally Advanced Lung Non-Small Cell Squamous Carcinoma

A non-small cell squamous carcinoma of the lung that has spread from its original site of growth to nearby tissues or lymph nodes.


pleural lipoma

A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall.


Lung Cancer by AJCC v6 Stage

A term that refers to the staging of lung carcinoma according to the American Joint Committee on Cancer, 6th edition.


Lung Carcinoma Metastatic in the Central Nervous System

A carcinoma that has spread to the central nervous system from its original site in the lung, through the hematogenous route.


Stage II Lung Cancer AJCC v6

Stage II includes: IIA (T1, N1, M0) and IIB (T2, N1, M0) or (T3, N0, M0).  T1: Tumor is 3 cm or less in greatest dimension, surrounded by lung or visceral pleura, and without bronchoscopic evidence of invasion more proximal than the lobar bronchus.  T2: Tumor has any of the following features of size or extent: more than 3 cm in greatest dimension; involves the main bronchus, 2 cm or more distal to the carina; invades the visceral pleura; associated with atelectasis or obstructive pneumonitis that extends to the hilar region but does not involve the entire lung.  T3: Tumor (of any size) directly invades any of the following: chest wall (including superior sulcus tumors), diaphragm, mediastinal pleura, parietal pericardium; or tumor in the main bronchus less than 2 cm distal to the carina but without involvement of the carina; or associated atelectasis or obstructive pneumonitis of the entire lung. N0: No regional lymph node metastasis.  N1: Metastasis to ipsilateral peribronchial and/or ipsilateral hilar lymph nodes, and intrapulmonary nodes including involvement by direct extension of the primary tumor. M0: No distant metastasis. (AJCC 6th ed.)


Stage IV Lung Small Cell Carcinoma AJCC v7

Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b).  M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion.  M1b: Distant metastasis. (AJCC 7th ed.)


Refractory Lung Non-Squamous Non-Small Cell Carcinoma

Non-squamous non-small cell lung carcinoma that is resistant to treatment.


Stage III Lung Cancer AJCC v8

Stage III includes: IIIA: (T1a, N2, M0); (T1b, N2, M0); (T1c, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T4, N0, M0); (T4, N1, M0); IIIB: (T1a, N3, M0); (T1b, N3, M0); (T1c, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N2, M0); (T4, N2, M0); IIIC: (T3, N3, M0); (T4, N3, M0). T1a: Tumor measuring 1 cm or less in greatest dimension. A superficial, spreading tumor of any size whose invasive component is limited to the bronchial wall and may extend proximal to the main bronchus also is classified as T1a, but these tumors are uncommon. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. T1c: Tumor measuring more than 2 cm but 3 cm or less in greatest dimension. T2a: Tumor measuring more than 3 cm but 4 cm or less in greatest dimension. T2b: Tumor measuring more than 4 cm but 5 cm or less in greatest dimension. T3: Tumor measuring more than 5 cm but 7 cm or less in greatest dimension or directly invading any of the following: parietal pleura (PL3), chest wall (including superior sulcus tumors), phrenic nerve, parietal pericardium; or separate tumor nodule(s) in the same lobe as the primary. T4: Tumor measuring more than 7 cm or tumor of any size invading one or more of the following: diaphragm, mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, or carina; separate tumor nodule(s) in an ipsilateral lobe different from that of the primary. N0: No regional lymph node metastases. N1: Metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary nodes, including involvement by direct extension. N2: Metastasis in ipsilateral mediastinal and/or subcarinal lymph node(s). N3: Metastasis in contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph node(s). M0: No distant metastasis. (AJCC 8th ed.)


Adenocarcinoma of lung, stage I

Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Lung Mixed Squamous Cell and Glandular Papilloma

An exceedingly rare benign endobronchial neoplasm characterized by the presence of fibrovascular cores which are lined by both squamous and glandular epithelium. Patients present with obstructive symptoms. Complete resection is curative.


carcinosarcoma of lung

A morphologic variant of lung sarcomatoid carcinoma composed of a mixture of non-small cell lung carcinoma and a sarcomatous component.


Lung Squamous Cell Carcinoma, Clear Cell Variant

A morphologic variant of squamous cell lung carcinoma characterized by the presence of clear cells.


Masaoka-Koga Stage IIb

The tumor shows invasion through the capsule and into the surrounding fatty tissue.


constitutional neutropenia

A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.


Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.


autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the JAGN1 gene, encoding protein jagunal homolog 1.


primary immunodeficiency syndrome due to p14 deficiency

Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.


Lichtenstein syndrome

Lichstenstein syndrome is characterized by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.


X-linked severe congenital neutropenia

This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.


Kostmann syndrome

Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.


autosomal recessive severe congenital neutropenia due to CXCR2 deficiency


autosomal recessive severe congenital neutropenia

Severe congenital neutropenia inherited in an autosomal recessive pattern.


neutropenia, severe congenital, 8, autosomal dominant


Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the VPS45 gene, encoding vacuolar protein sorting-associated protein 45. It is characterized by neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.


neutropenia, severe congenital, 2, autosomal dominant

Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.


autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the CSF3R gene, encoding granulocyte colony-stimulating factor receptor. It is characterized by the onset of recurrent infections in infancy or early childhood and peripheral neutropenia, despite normal granulocyte maturation, that is unresponsive to treatment with G-CSF.


neutropenia, lethal congenital, with eosinophilia


glycogen storage disease Ib

A type of glycogenosis due to G6P deficiency.


neutropenia, severe congenital, 1, autosomal dominant


Cohen syndrome

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.


autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the G6PC3 gene, encoding glucose-6-phosphatase 3. It is characterized by cardiac abnormalities, hepatosplenomegaly, intermittent thrombocytopenia and a prominent superficial venous pattern.


autosomal dominant severe congenital neutropenia

Autosomal dominant form of severe congenital neutropenia.


neutropenia, severe congenital, 9, autosomal dominant


poikiloderma with neutropenia

A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.


ribonucleoside-diphosphate reductase large subunit isoform 1 (human)

A ribonucleoside-diphosphate reductase large subunit isoform 1 that is encoded in the genome of human.


Grade 2 Non-Malignant Ascites, CTCAE

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


porokeratosis 8, disseminated superficial actinic type


linear porokeratosis

Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.


porokeratosis 6, disseminated superficial actinic type


porokeratosis 9, multiple types

Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.


disseminated superficial actinic porokeratosis

Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.


porokeratosis 5, disseminated superficial actinic type


porokeratosis of Mibelli

Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.


porokeratosis 4, disseminated superficial actinic type


porokeratosis 3, disseminated superficial actinic type


porokeratosis plantaris palmaris et disseminata

Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.


ethmoid sinusitis

An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus.


acute ethmoiditis

Acute form of ethmoid sinusitis.


chronic ethmoidal sinusitis

Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


infiltrating nipple syringomatous adenoma

An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported.


breast fibroepithelial neoplasm

A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.


breast neuroendocrine neoplasm

A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare.


breasts and/or nipples, aplasia or hypoplasia of, 2

Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.


benign eccrine breast spiradenoma

A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells.


isolated congenital breast hypoplasia/aplasia


blunt duct adenosis of breast

Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia.


scalp-ear-nipple syndrome

Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.


giant adenofibroma of the breast

Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.


breast synovial sarcoma

A synovial sarcoma (disease) that involves the breast.


breast myofibroblastoma

A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass.


apocrine adenosis of breast

Breast adenosis characterized by the presence of extensive apocrine metaplasia.


breast fibrocystic change, proliferative type

Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.


breast phyllodes tumor

A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.


breast fibrosis

Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.


Becker nevus syndrome

Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.


salivary gland type cancer of the breast

A group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.


acropectororenal dysplasia

Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.


intraductal breast neoplasm

A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.


limb-mammary syndrome

Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.


solitary cyst of breast

A single, fluid-filled cyst in the breast parenchyma.


microglandular adenosis of breast

A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.


breast implant illness

A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. This syndrome may be related to breast implants


lactocele

Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice.


ulnar-mammary syndrome

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.


benign breast phyllodes tumor

A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors.


breast adenomyoepithelial adenosis

An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present.


linear and whorled nevoid hypermelanosis

Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.


breast giant fibroadenoma

A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.


nipple neoplasm

A benign or malignant neoplasm that arises in the area of the nipple.


familial juvenile hypertrophy of the breast

Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.


benign neoplasm of male breast

A non-metastasizing neoplasm that arises from the breast parenchyma in males.


multiple fibroadenoma of the breast

Mammary polyadenomatosis is characterized by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.


craniofrontonasal dysplasia-Poland anomaly syndrome

Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.


usual ductal breast hyperplasia

A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells.


breast angiomatosis

A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.


breasts and/or nipples, aplasia or hypoplasia of, 1


flat ductal epithelial atypia

A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia.


breast lipoma

A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent.


non-proliferative fibrocystic change of the breast

Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.


infant gynecomastia

Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen.


diabetic mastopathy

Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).


sclerosing adenosis of breast

Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present.


mammary-digital-nail syndrome

Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.


breast pericanalicular fibroadenoma

A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.


breast intracanalicular fibroadenoma

A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.


fat necrosis of breast

Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment.


intraductal papillary breast neoplasm

A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma.


lactation disease

A disorder not necessarily related to pregnancy that is observed in females and males. It is characterized by disturbances of milk secretion. Causes include damage to the breast parenchyma due to inflammation, medications, pituitary tumors, and hypothyroidism.


Epicillin

A penicillin in which the substituent at position 6 of the penam ring is a (2R)-2-amino-2-(cyclohexa-1,4-dien-1-yl)acetamido group.


Flavocillin

A penicillin in which the substituent at position 6 of the penam ring is a [3-(4-oxo-4H-chromen-2-yl)benzoyl]nitrilo group.


Sulbenicillin

A penicillin antibiotic having a 6beta-[phenyl(sulfo)acetamido] side-chain.


Penicillanic acid carrying a (p-aminophenyl)imino]pentylidene}amino substituent at the 6beta position. It has been used as a hapten in the production of a generic monoclonal antibody for determining penicillin residues in milk.


Pivmecillinam

A penicillanic acid ester that is the [(2,2-dimethylpropanoyl)oxy]methyl ester and prodrug of mecillinam.


Mecillinam

A penicillin in which the 6beta substituent is [(azepan-1-yl)methylidene]amino; an extended-spectrum penicillin antibiotic that binds specifically to penicillin binding protein 2 (PBP2), and is only considered to be active against Gram-negative bacteria.


Metampicillin

A penicillin compound having a 6beta-(2R)-2-(methylideneamino)-2-phenylacetamido side-group.


Temocillin

A penicillin compound having a 6alpha-methoxy and 6beta-[2-carboxy(thiophen-3-yl)acetamido side-groups.


Almecillin

A penicillin where the side-chain N-acyl group is specified as allylmercaptoacetyl. Antibiotic isolated from Penicillium chrysogenum.


Pheneticillin

A penicillin in which the substituent at position 6 of the penam ring is a 2-phenoxypropanamido group.


Quinacillin

A semisynthetic penicillase-resistant penicillin with antibacterial activity; it binds to and inactivates penicillin-binding proteins (PBPs) located on the inner membrane of the bacterial cell wall.


N-benzoylampicillin

A penicillin that is the N-benzoyl derivative of ampicillin.


Clometocillin

A penicillin that is benzylpenicillin in which the phenylacetyl group has been replaced by a (3,4-dichlorophenyl)(methoxy)acetyl group. It is a mixture of epimers at the methoxy-bearing carbon.


Penicillanic acid carrying a (p-hydroxybenzylidene)amino substituent at the 6beta position. It has been used as a hapten in the production of a generic monoclonal antibody for determining penicillin residues in milk.


penicillin allergen

Any penicillin which causes the onset of an allergic reaction.


Grade 1 Jejunal Fistula, CTCAE

Asymptomatic


U5 small nuclear ribonucleoprotein 200 kDa helicase isoform 1 (human)

A U5 small nuclear ribonucleoprotein 200 kDa helicase isoform 1 that is encoded in the genome of human.


Recurrent Ocular Melanoma

The reemergence of ocular melanoma after a period of remission.


Melanoma recurrent

The reemergence of a melanoma after a period of remission.


Recurrent Uveal Melanoma

The reemergence of uveal melanoma after a period of remission.


Lentigo maligna recurrent

The reemergence of lentigo maligna after a period of remission


Recurrent Non-Cutaneous Melanoma

The reemergence of non-cutaneous melanoma after a period of remission.


Recurrent Mucosal Melanoma

The reemergence of a mucosal melanoma after a period of remission.


Recurrent Cutaneous Melanoma of the Extremity

Cutaneous melanoma of the upper or lower extremity that has recurred after a period of remission.


Recurrent Acral Lentiginous Melanoma

The reemergence of acral lentiginous melanoma after a period of remission.


mitogen-activated protein kinase 9 isoform hAlpha-2 (human)

A mitogen-activated protein kinase 9 (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:P45984-1.


mitogen-activated protein kinase 9 phosphorylated 1 (human)

A mitogen-activated protein kinase 9 (human) that has been phosphorylated on the residue at the position equivalent to Thr-183, and phosphotyrosine at position 185 of the amino acid sequence represented by UniProtKB:P45984. UniProtKB:P45984, Thr-183, MOD:00047|Tyr-185, MOD:00048.


mitogen-activated protein kinase 9 isoform hBeta-1 (human)

A mitogen-activated protein kinase 9 (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:P45984-3.


mitogen-activated protein kinase 9 isoform Alpha-1 (human)

A mitogen-activated protein kinase 9 isoform 2 that is encoded in the genome of human.


mitogen-activated protein kinase 9 isoform h5 (human)

A mitogen-activated protein kinase 9 (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:P45984-5.


mitogen-activated protein kinase 9 isoform hBeta-2 (human)

A mitogen-activated protein kinase 9 (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:P45984-4.


voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human)

A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gln residue at the position equivalent to Arg-190 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-190, CHEBI:30011.


Trichomonas vaginitis urogenital infection

A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.


Trichomonas cystitis

An cystitis caused by infection with Trichomonas vaginalis.


Trichomonas cervicitis

An cervicitis (disease) caused by infection with Trichomonas vaginalis.


Grade 2 Fibrinogen Decreased, CTCAE

<0.75-0.5 x LLN; if abnormal, 25-<50% decrease from baseline


Colon Liposarcoma

A liposarcoma that arises from the colon.


Grade 3 Pulmonary Artery Intra-Operative Injury, CTCAE


voltage-dependent L-type calcium channel subunit alpha-1S isoform r1 (rat)

A voltage-dependent L-type calcium channel subunit alpha-1S (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:Q02485-1.


Advanced Head and Neck Squamous Cell Carcinoma

A head and neck squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cutaneous Squamous Cell Carcinoma of the Head and Neck

Cutaneous squamous cell carcinoma of the head and neck that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Oral Cavity Squamous Cell Carcinoma

A squamous cell carcinoma of the oral cavity that has spread extensively to other anatomic sites or is no longer responding to treatment.


Locally Advanced Nasal Cavity Squamous Cell Carcinoma

Nasal cavity squamous cell carcinoma that has spread to nearby tissues or lymph nodes.


Metastatic Nasal Cavity Squamous Cell Carcinoma

Nasal cavity squamous cell carcinoma that has spread from its original site of growth to another anatomic site.


Unresectable Nasal Cavity Squamous Cell Carcinoma

Nasal cavity squamous cell carcinoma that is not amenable to surgical resection.


keratinizing squamous cell carcinoma of nasal cavity

A squamous cell carcinoma that arises from the nasal cavity and is characterized by prominent production of keratin.


serine/threonine-protein kinase 25 isoform h2 (human)

A serine/threonine-protein kinase 25 (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:O00506-2.


serine/threonine-protein kinase 25 isoform 1 (human)

A serine/threonine-protein kinase 25 isoform 1 that is encoded in the genome of human.


serine/threonine-protein kinase 25 isoform h3 (human)

A serine/threonine-protein kinase 25 (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:O00506-3.


Type A Tylosis

An inherited form of tylosis that presents between 5-14 years of age and is characterized by focal areas of nonepidermolytic palmoplantar keratoderma. Individuals have an increased incidence of esophageal carcinoma.


keratosis

A skin disorder consisting of hypertrophy of the stratum corneum of the skin.


Type B Tylosis

An inherited form of tylosis that presents by one year and is characterized by benign palmoplantar keratoderma.


acquired keratosis

Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.


Palmoplantar keratoderma with leukoplakia

A hereditary syndrome this is characterized by palmoplantar keratoderma accompanied by leukoplakia and may be associated with a high lifetime risk of esophageal cancer, as seen in Howel-Evans Syndrome.


ephrin type-B receptor 1, signal peptide removed form (human)

An ephrin type-B receptor 1 (human) that has had the signal peptide removed. UniProtKB:P54762, 18-984.


ephrin type-B receptor 1, signal peptide removed phosphorylated 1 (human)

An ephrin type-B receptor 1 (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 594 and 600 of the amino acid sequence represented by UniProtKB:P54762. UniProtKB:P54762, 18-984, Tyr-594/Tyr-600, MOD:00048.


Enteric hyperoxaluria

Excessive urinary oxalate excretion resulting from increased absorption of oxalate.


maltase-glucoamylase O-glycosylated 1 (human)

A maltase-glucoamylase (human) that has been O-glycosylated at the residue equivalent to Thr-80 of the amino acid sequence represented by UniProtKB:O43451-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:O43451-1, Thr-80, MOD:00005~GNO:G53434XO.


amyloid-beta precursor protein sequence variant A692G (human)

An amyloid-beta precursor protein sequence variant (human) that has a Gly residue at the position equivalent to Ala-692 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-692, CHEBI:29947.


(S)-chlormezanone

The (S)-enantiomer of chlormezanone.


glutamate dehydrogenase 2, mitochondrial, transit peptide removed form (human)

A glutamate dehydrogenase 2, mitochondrial (human) that has had the transit peptide removed. UniProtKB:P49448, 54-558.


B-cell receptor CD22 isoform h3 (human)

A B-cell receptor CD22 (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:P20273-3.


Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.


erythema elevatum diutinum

Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.


transcription factor p65 isoform 1 acetylated 1 (human)

A transcription factor p65 isoform 1 acetylated 1 in human. UniProtKB:Q04206-1, Lys-310/Lys-314/Lys-315, MOD:00064.


Maternally Derived Graft Versus Host Disease

Graft versus host disease (GVHD) that occurs in an infant as the result of engraftment of maternal lymphocytes, resulting from in utero maternal-fetal cellular trafficking.


multiple skull base meningioma

Multiple meningiomas that affect the skull base.


hexol

A polyol that contains 6 hydroxy groups.


Grade 5 Hydrocephalus, CTCAE

Death


thymidylate kinase isoform 1 (human)

A thymidylate kinase isoform 1 that is encoded in the genome of human.


normokalemic periodic paralysis

An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis.  Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium.


potassium voltage-gated channel subfamily C member 2 isoform KSHIIIA.1 (rat)

A voltage-gated potassium channel KCNC2 isoform 3 that is encoded in the genome of rat.


potassium voltage-gated channel subfamily C member 2 isoform 3 (human)

A voltage-gated potassium channel KCNC2 isoform 3 that is encoded in the genome of human.


Grade 2 Rectum Mucositis or Stomatitis by Clinical Examination Classification, CTCAE


histamine H3 receptor isoform r3 (rat)

A histamine H3 receptor (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:Q9QYN8-3.


Harel-Yoon syndrome

A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.


focal labyrinthitis

A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.


viral labyrinthitis

An labyrinthitis caused by infection with Viruses.


serous labyrinthitis

A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.


infectious otitis interna

Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.


purulent labyrinthitis

A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.


complement C3 N-glycosylated 7 (human)

A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G31852PQ.


Recurrent Fibrosarcoma

The reemergence of fibrosarcoma after a period of remission.


Peritoneum injury with open wound into cavity

Trauma to the peritoneum associated with a break in the tissue that extends into the abdominal cavity.


mueller-weiss syndrome

A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.


plasminogen O-glycosylated 5 (human)

A plasminogen (human) that has been O-glycosylated at the residue equivalent to Ser-358 of the amino acid sequence represented by UniProtKB:P00747-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00747-1, Ser-358, MOD:00002~GNO:G43417UB.


neurotensin receptor type 2 isoform 1 (mouse)

A neurotensin receptor type 2 isoform 1 that is encoded in the genome of mouse.


H syndrome

A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).


candidiasis, invasive

A fungal infection by any of the Candida species in a sterile body compartment.


Acute monocytic/monoblastic leukemia

Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. Bleeding disorders are common presenting features.


Childhood Acute Monoblastic Leukemia

An acute monoblastic leukemia occurring in children.


acute monoblastic/monocytic leukemia in relapse

The reemergence of acute monoblastic and monocytic leukemia after a period of remission.


Adult Acute Monoblastic Leukemia

An acute monoblastic leukemia occurring in adults.


Refractory Acute Monoblastic and Monocytic Leukemia

Acute monoblastic and monocytic leukemia that does not respond to treatment.


Adult Acute Monoblastic and Monocytic Leukemia

An acute monoblastic and monocytic leukemia occurring in adults.


adult acute monocytic leukemia

A acute monocytic leukemia that occurs in an adult.


aleukemic monocytic leukemia cutis

Aleukemic leukemia cutis where the skin in infiltrated by neoplastic monocytes.


Childhood Acute Monocytic Leukemia

An acute monocytic leukemia occurring in children.


Childhood Acute Monoblastic and Monocytic Leukemia

An acute monoblastic and monocytic leukemia occurring in children.


X-linked acrogigantism due to a point mutation


Tonic Neck Reflex

An involuntary, primal response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward.


Developmental Finding

Symptoms, physical examination results, and/or laboratory test results related to physical, emotional, behavioral, or social development.


Iatrogenic Growth Failure

Growth failure due to medical intervention.


Periventricular Hemorrhage of the Newborn

Bleeding into the brain tissue adjacent to the lateral cerebral ventricles of newborn infant.


Sucking Reflex

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


Step Reflex

An involuntary, primal response in the neonate to take brisk steps when the feet are placed on a surface whilst in a supported standing position.


Rooting Reflex

An involuntary, primal response in the neonate to search for the nipple when the cheek is touched.


Infantile Colic

Paroxysms of irritability, fussing or crying that starts and stops without obvious cause in an infant up to four months of age without failure to thrive. Episodes last three or more hours per day for at least three days per week for at least on week.


Fetus Large for Gestational Age

A fetus exceeding 90% of expected weight for gestational age.


Transient Leukemoid Reaction of the Newborn

Increased white blood cell count and increased neutrophil precursors resembling leukemia in a neonate or fetus. Often, this is a response to medications received, infection or Down syndrome.


Newborn or Infant Finding

Clinical, laboratory or molecular evidence, or absence of evidence of disease in a neonate or infant.


Failure to thrive in infant

A clinical finding indicating less than normal growth in infancy.


Growth Failure of Unknown Etiology

Subnormal linear growth rate in an infant, child or adolescent based on the normative values for the age and sex of the reference population; the cause of the growth failure is unknown.


Intraventricular (nontraumatic) hemorrhage, grade 1, of fetus and newborn

Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles of a newborn.


Failure of Catch-Up Growth

Failure to achieve a linear growth rate sufficient to restore height to within the normative range for the reference population.


Infant Reflex

Primitive reflex actions that newborns display in response to specific stimuli. These reflexes are involuntary and most disappear as the infant matures.


Grasp Reflex

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


Intraparenchymal Hemorrhage of the Newborn

Bleeding into the brain tissue of a newborn infant.


Moro Reflex

An involuntary, primal response in the neonate to loud noise or the feeling of falling. The response is characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and involuntarily flexing the fingers and toes.


Plantar Grasp Reflex

A newborn reflex that is characterized by flexion of the toes when the sole of the foot is stroked.


mitochondrial complex 1 deficiency, nuclear type 14


coagulation factor VII N-glycosylated 10 (human)

A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-382 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P08709-1, Asn-382, MOD:00160~GNO:G08146BT.


Resectable Adenocarcinoma of Unknown Primary

An adenocarcinoma of unknown primary that is amenable to surgical resection.


Resectable Carcinoma of Unknown Primary

A carcinoma of unknown primary that is amenable to surgical resection.


Nipple Sensation Change or Loss

Excessive sensitivity or changes in sensitivity in the nipple(s).


macrophage migration inhibitory factor

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


macrophage migration inhibitory factor isoform 1 (human)

A macrophage migration inhibitory factor isoform 1 that is encoded in the genome of human.


macrophage migration inhibitory factor, initiator methionine removed form (human)

A macrophage migration inhibitory factor (human) that has had the initiator methionine removed. UniProtKB:P14174, 2-115.


Blanching

Transient pallor of the skin caused by reduced blood flow to the affected region.


secretory meningioma

A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.


Red cell adenylate kinase deficiency

An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment.


anemia due to erythrocyte enzyme disorder

Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.


glycogen storage disease due to phosphoglycerate mutase deficiency

A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.


Deficiency of hexokinase (disorder)

A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia.


Glucose phosphate isomerase deficiency

A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia.


Deficiency of enolase

A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness.


triosephosphate isomerase deficiency

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.


hemolytic anemia due to diphosphoglycerate mutase deficiency

A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.


Uridine monophosphate hydrolase deficiency

An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder.


thiocarbamic ester

Any organonitrogen compound with formula RS-C(=X)NH2 where X = O (monothiocarbamic esters) or S (dithiocarbamic esters), or their N-substituted derivatives.


monothiocarbamic ester

A thiocarbamic ester formally derived from a monothiocarbamic acid.


composite hemangioendothelioma

An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.


Intermediate Vascular Neoplasm

A vascular neoplasm with borderline malignant potential.


retiform hemangioendothelioma

An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.


kaposiform hemangioendothelioma

Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.


Intermediate (Locally Aggressive) Blood Vessel Neoplasm

A borderline blood vessel neoplasm that has locally aggressive behavior.


Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma

An intermediate, rarely metastasizing blood vessel neoplasm that more frequently affects young adult males and usually arises in the lower limbs.  In approximately half of the affected patients the tumor is painful and in two-thirds of the patients the tumor is multifocal.  Morphologically it is characterized by the presence of sheets and fascicles of spindle cells with abundant eosinophilic cytoplasm and vesicular nuclei.  Cytologic atypia is usually mild.  Approximately 60% of the patients develop local recurrences or additional tumors in the same anatomic region.


Intermediate (Rarely Metastasizing) Blood Vessel Neoplasm

A borderline blood vessel neoplasm that may metastasize on rare occasions.


Intermediate Blood Vessel Neoplasm

A borderline blood vessel neoplasm that can be locally aggressive, and may metastasize on rare occasions.


An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.


Polymorphus Hemangioendothelioma

An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of a polymorphic cellular infiltrate.


mild ichthyosis vulgaris

An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.


B-lymphocyte antigen CD19, signal peptide removed form (human)

A B-lymphocyte antigen CD19 (human) that has had the signal peptide removed. UniProtKB:P15391, 20-556.


B-lymphocyte antigen CD19, signal peptide removed phosphorylated 1 (human)

A B-lymphocyte antigen CD19 (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 348, 378, 409, 439, 500 and 531 of the amino acid sequence represented by UniProtKB:P15391. UniProtKB:P15391, 20-556, Tyr-348/Tyr-378/Tyr-409/Tyr-439/Tyr-500/Tyr-531, MOD:00048.


undecaprenyl-diphosphatase

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


UMP-CMP kinase isoform h2 (human)

A UMP-CMP 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:P30085-2.


UMP-CMP kinase isoform h3 (human)

A UMP-CMP 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:P30085-3.


UMP-CMP kinase isoform h1 (human)

A UMP-CMP 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:P30085-1.


Elevated Expression

An indication that the expression of a gene, transcript or protein is higher than a previous value or a normal range of values.


TP53 Overexpression Positive

An indication that overexpression of TP53 has been detected in a sample.


MiRNA 371-373 Overexpression

An indication that microRNAs found in the miRNA 371-373 cluster are overexpressed in a sample.


Fibroblast Growth Factor 1 Overexpression


BCL2 Overexpression Positive

An indication that overexpression of BCL2 has been detected in a sample.


Presence of ERBB2 Overexpressing Disseminated Tumor Cells

An indication that single tumor cells or small clusters of tumor cells that are overexpressing ERBB2 are present in a tissue sample.


Elevated ALCAM

A finding indicating elevated concentrations of ALCAM in a sample.


BCL6 Overexpression Positive

An indication that overexpression of BCL6 has been detected in a sample.


THBS1 Overexpression Positive

An indication that overexpression of THBS1 has been detected in a sample.


HIF1A Overexpression Positive

An indication that overexpression of HIF1A has been detected in a sample.


HRAS Overexpression Positive

An indication that overexpression of HRAS has been detected in a sample.


Transforming Growth Factor-Beta Overexpression


Elevated MET Protein Expression

An indication that elevated concentrations of MET protein were found in a sample.


MET Overexpression Positive

An indication that overexpression of MET has been detected in a sample.


VEGF Overexpression Positive

An indication that overexpression of a member of the VEGF family has been detected in a sample.


AXL Overexpression Positive

An indication that overexpression of AXL has been detected in a sample.


NTRK1 Overexpression Positive

An indication that overexpression of NTRK1 has been detected in a sample.


FGF23 Overexpression Positive

An indication that overexpression of FGF23 has been detected in a sample.


Fibroblast Growth Factor 2 Overexpression


EZHIP Overexpression Positive

An indication that overexpression of EZHIP has been detected in a sample.


GRPR Overexpression Positive

An indication that overexpression of GRPR has been detected in a sample.


ERBB2 Overexpression

An indication that overexpression of ERBB2 has been detected in a sample.


KIT Overexpression Positive

An indication that overexpression of KIT has been detected in a sample.


NECTIN4 Overexpression Positive

An indication that overexpression of NECTIN4 has been detected in a sample.


Grade 1 Lymphocyte Count Decreased, CTCAE

<LLN-800/mm3; <LLN-0.8 x 10e9/L


Hemolymphangioma

A hemorrhagic lymphatic lesion characterized by the presence of dilated lymphatic spaces, extravasation of red blood cells, hemosiderin deposition, and fibrosis.


Grade 3 Fallopian Tube Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


chilblain lupus 1

Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.


chronic cutaneous lupus erythematosus

Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.


hypertrophic or verrucous lupus erythematosus


familial chilblain lupus

An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.


lupus erythematosus panniculitis

A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.


chilblain lupus 2

Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.


chilblain lupus

A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.


A 5-[(2-cyclopropyl-7,8-dimethoxy-2H-chromen-5-yl)methyl]pyrimidine-2,4-diamine in which the chiral centre has R configuration.


Angelucci syndrome

Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.


acute conjunctivitis

Acute inflammation of the conjunctiva.


acute contagious conjunctivitis

Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.


Pancreatic Serous Adenoma

A benign, non-metastasizing, usually cystic epithelial neoplasm arising from the exocrine pancreas.  It is composed of glycogen-rich epithelial cells which produce a watery fluid.  Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.


Pancreatic Macrocystic Serous Cystadenoma

A benign, non-metastasizing epithelial neoplasm arising from the exocrine pancreas.  It is characterized by the presence of a few large cysts and is composed of glycogen-rich epithelial cells which produce a watery fluid.


Pancreatic Solid Serous Adenoma

A well-circumscribed serous adenoma that is solid and lacks cystic changes.


Von Hippel Lindau Syndrome-Associated Pancreatic Serous Adenoma

A serous adenoma that develops in a patient with Von Hippel-Lindau syndrome.  Usually there are multiple serous adenomas present of the macrocystic type.


Locally Advanced Gastrointestinal Stromal Tumor

Gastrointestinal stromal tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


Metastatic Gastrointestinal Stromal Tumor

Gastrointestinal stromal tumor which has spread from its original site of growth to another anatomic site.


Advanced Gastrointestinal Stromal Tumor

A gastrointestinal stromal tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


aurora kinase A sumoylated 1 (human)

An aurora kinase A (human) that has been post-translationally modified to include sumoylated lysine at position 258 of the amino acid sequence represented by UniProtKB:O14965. UniProtKB:O14965, Lys-258, MOD:01149.


cyclin-dependent kinase 16 isoform 1 (human)

A cyclin-dependent kinase 16 isoform 1 that is encoded in the genome of human.


cyclin-dependent kinase 16 isoform h2 (human)

A cyclin-dependent kinase 16 (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:Q00536-2.


cyclin-dependent kinase 16 isoform h3 (human)

A cyclin-dependent kinase 16 (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:Q00536-3.


mitochondrial complex 1 deficiency, nuclear type 16


Vaginal Blue Nevus

A neoplasm that arises from the vagina and is characterized by the proliferation of subepithelial benign dendritic melanocytes.


type I iodothyronine deiodinase

A protein that is a translation product of the human DIO1 gene or a 1:1 ortholog thereof.


type I iodothyronine deiodinase isoform h5 (human)

A type I iodothyronine deiodinase (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:P49895-5.


type I iodothyronine deiodinase isoform h3 (human)

A type I iodothyronine deiodinase (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:P49895-3.


type I iodothyronine deiodinase isoform h9 (human)

A type I iodothyronine deiodinase (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:P49895-9.


type I iodothyronine deiodinase isoform h4 (human)

A type I iodothyronine deiodinase (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:P49895-4.


type I iodothyronine deiodinase isoform h8 (human)

A type I iodothyronine deiodinase (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:P49895-8.


type I iodothyronine deiodinase isoform h2 (human)

A type I iodothyronine deiodinase (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:P49895-2.


type I iodothyronine deiodinase isoform h6 (human)

A type I iodothyronine deiodinase (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:P49895-6.


type I iodothyronine deiodinase isoform h1 (human)

A type I iodothyronine deiodinase (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:P49895-1.


type I iodothyronine deiodinase isoform h7 (human)

A type I iodothyronine deiodinase (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:P49895-7.


Charcot-Marie-Tooth disease type 2B

Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.


NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial, transit peptide removed form (human)

An NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial (human) that has had the transit peptide removed. UniProtKB:O43677, 28-76.


PIGA Deficiency

An X-linked recessive inherited disorder caused by loss of function mutations in the PIGA gene. It is characterized by deficient GPI-anchor synthesis. Patients may develop somatic paroxysmal nocturnal hemoglobinuria (PNH) or multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2; early infantile epileptic encephalopathy 20; EIEE20).


nystagmus 3, congenital, autosomal dominant


Chest Pain Along Right Upper Sternal Border

The location of the chest pain is along the right upper border of the sternum.


Grade 2 Colonic Fistula, CTCAE

Symptomatic, invasive intervention not indicated


spondylo-ocular syndrome

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.


neurological muscular channelopathy due to a genetic chloride channel defect


fructose-1,6-bisphosphatase 1

A protein that is a translation product of the human FBP1 gene or a 1:1 ortholog thereof.


fructose-1,6-bisphosphatase 1, initiator methionine removed form (human)

A fructose-1,6-bisphosphatase 1 (human) that has had the initiator methionine removed. UniProtKB:P09467, 2-338.


fructose-1,6-bisphosphatase 1 isoform 1 (human)

A fructose-1,6-bisphosphatase 1 isoform 1 that is encoded in the genome of human.


coagulation factor XII O-glycosylated 4 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-299 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P00748-1, Thr-299, MOD:00005~GNO:G53434XO.


coagulation factor XII O-glycosylated 11 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-43 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00748-1, Thr-43, MOD:00005~GNO:G43417UB.


coagulation factor XII O-glycosylated 2 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Ser-335 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00748-1, Ser-335, MOD:00002~GNO:G43417UB.


coagulation factor XII O-glycosylated 10 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-337 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00748-1, Thr-337, MOD:00005~GNO:G43417UB.


coagulation factor XII O-glycosylated 1 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Ser-335 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P00748-1, Ser-335, MOD:00002~GNO:G29068FM.


coagulation factor XII O-glycosylated 9 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-337 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P00748-1, Thr-337, MOD:00005~GNO:G29068FM.


coagulation factor XII O-glycosylated 7 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-328 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P00748-1, Thr-328, MOD:00005~GNO:G53434XO.


coagulation factor XII O-glycosylated 8 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-328 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P00748-1, Thr-328, MOD:00005~GNO:G58001LT.


coagulation factor XII O-glycosylated 5 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-299 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P00748-1, Thr-299, MOD:00005~GNO:G58001LT.


coagulation factor XII O-glycosylated 3 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-299 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P00748-1, Thr-299, MOD:00005~GNO:G29068FM.


coagulation factor XII O-glycosylated 6 (human)

A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-328 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P00748-1, Thr-328, MOD:00005~GNO:G29068FM.


coagulation factor XII, signal peptide removed form (human)

A coagulation factor XII (human) that has had the signal peptide removed. UniProtKB:P00748, 20-615.


Intraoperative skin injury

Damage to the skin during a surgical procedure.


Frostbite

An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold.


Skin Bruise

Extravasation of blood into the subcutaneous space.


Excoriation

Self-inflicted tearing or wearing off of skin.


polyamino carboxylic acid

An amino acid containing one or more nitrogen atoms connected through carbon atoms to one or more carboxy groups.


juvenile open angle glaucoma

Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.


glaucoma 1, open angle, O

Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.


low tension glaucoma

A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.


glaucoma 1, open angle, A

Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.


phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform h2 (human)

A phosphorylase b kinase gamma catalytic chain, liver/testis isoform (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:P15735-2.


phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1 (human)

A phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1 that is encoded in the genome of human.


persistent polyclonal B-cell lymphocytosis

Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.


(+)-Ethotoin

The (S)-enantiomer of ethotoin.


(-)-Ethotoin

The (R)-enantiomer of ethotoin.


Hydantoin

An imidazolidinone with oxo groups at position 2 and 4.


The Z-isomer of imidacloprid.


imidazolidinone

An imidazolidine containing one or more oxo groups.


(S)-(+)-allantoin

An optically active form of allantoin having (S)-(+)-configuration.


Allantoin, (-)-

An optically active form of allantoin having (R)-(-)-configuration.


peroxisomal acyl-coenzyme A oxidase 3 isoform h2 (human)

A peroxisomal acyl-coenzyme A oxidase 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:O15254-2.


P2Y purinoceptor 11

A rhodopsin-like G-protein coupled receptor that is a translation product of the human P2RY11 gene or a 1:1 ortholog thereof. The preferred ligands are ATP and ADP.


Multinodular Adrenal Hyperplasia

A subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules.


Grade 5 Rectal Anastomotic Leak, CTCAE

Death


A N-(long-chain-acyl)ethanolamine that is the ethanolamide of (15Z)-tetracosenoic acid.


n-Oleoylethanolamine

An N-(long-chain-acyl)ethanolamine that is the ethanolamide of oleic acid. The monounsaturated analogue of the endocannabinoid anandamide.


Palmitoleoyl Ethanolamide

An N-acylethanolamine 16:1 that is the ethanolamide of palmitoleic acid.


ovarian lymphoma

A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.


hydrophthalmos

Abnormal enlargement of the eye


Unresectable Digestive System Mixed Adenoneuroendocrine Carcinoma

Digestive system mixed adenoneuroendocrine carcinoma that is not amenable to surgical resection.


juvenile polymyositis

An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.


voltage-dependent L-type calcium channel subunit alpha-1D isoform Neuronal-type (human)

A voltage-dependent L-type calcium channel subunit alpha-1D (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:Q01668-1.


Advanced Pancreatic Neuroendocrine Tumor

A pancreatic neuroendocrine tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


Pancreatic neuroendocrine tumor metastatic

A neuroendocrine tumor that arises from the islet cells of the pancreas and has spread to another anatomic site.


Locally Advanced Pancreatic Neuroendocrine Tumor

A pancreatic neuroendocrine tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


puerperal infection

An infection occurring in puerperium, the period of 6-8 weeks after giving birth.


postpartum psychosis

Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.


short transient receptor potential channel 4 isoform beta (human)

A short transient receptor potential cation channel TRPC4 isoform 2 that is encoded in the genome of human.


short transient receptor potential channel 4 isoform beta (mouse)

A short transient receptor potential cation channel TRPC4 isoform 2 that is encoded in the genome of mouse.


serous cystadenofibroma

A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.


uterine corpus apoplectic leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.


ovarian clear cell adenofibroma

An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.


fibroma of prostate

A fibroma that involves the prostate gland.


uterine corpus cellular leiomyoma

A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.


uterine corpus bizarre leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.


uterine corpus dissecting leiomyoma

A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.


uterine corpus adenofibroma

A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.


testicular fibroma

A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.


ovarian clear cell cystadenofibroma

A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.


cystadenofibroma

A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.


adenofibroma

A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.


clear cell adenofibroma

A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.


ovarian endometrioid cystadenofibroma

A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.


uterine corpus diffuse leiomyomatosis

An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.


rete ovarii cystadenofibroma

An exceptionally rare cystadenofibroma that arises from the rete ovarii.


ovarian serous adenofibroma

A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.


uterine corpus lipoleiomyoma

A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.


serous adenofibroma

A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.


papillary adenofibroma

A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.


tendon sheath fibroma

A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.


fallopian tube serous adenofibroma

A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.


uterine corpus myxoid leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.


uterine corpus epithelioid leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.


clear cell cystadenofibroma

A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.


calcified aponeurotic fibroma

A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.


ovarian serous cystadenofibroma

A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.


fallopian tube cystadenofibroma

A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.


spastic paraplegia, intellectual disability, nystagmus, and obesity;


cAMP-specific 3',5'-cyclic phosphodiesterase 4B isoform PDE4B1 (human)

A cAMP-specific 3',5'-cyclic phosphodiesterase 4B (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:Q07343-1.


gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 (mouse)

A gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 that is encoded in the genome of mouse.


gamma-aminobutyric acid receptor subunit gamma-3

A GABA(A) receptor protein that is a translation product of the human GABRG3 gene or a 1:1 ortholog thereof.


gamma-aminobutyric acid receptor subunit gamma-3 isoform h2 (human)

A gamma-aminobutyric acid receptor subunit gamma-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:Q99928-2.


gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 (rat)

A gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 that is encoded in the genome of rat.


gamma-aminobutyric acid receptor subunit gamma-3, signal peptide removed form (human)

A gamma-aminobutyric acid receptor subunit gamma-3 (human) that has had the signal peptide removed. UniProtKB:Q99928, 18-467.


gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 (human)

A gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 that is encoded in the genome of human.


paraparetic variant of Guillain-Barre syndrome

Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.


chronic dacryocystitis

Chronic form of dacryocystitis.


Recurrent Prostate Acinar Adenocarcinoma

The reemergence of prostate acinar adenocarcinoma after a period of remission.


Adenocarcinoma of the prostate recurrent

The reemergence of prostate adenocarcinoma after a period of remission.


Biochemically Recurrent Prostate Carcinoma

Increasing prostate-specific antigen (PSA) following prostatectomy or radiation therapy in a patient with a history of localized prostate carcinoma. Signs of metastasis are absent using the currently available scanning technology.


Grade 3 Phantom Pain Associated with Missing Limb, CTCAE


benzenetriol

A triol in which three hydroxy groups are substituted onto a benzene ring.


procyanidin B3 3'-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'S)-hydroxy group of procyanidin B3.


procyanidin B4 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3S)-hydroxy group of procyanidin B4.


procyanidin B4 3'-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'R)-hydroxy group of procyanidin B4.


Eugeniin

An ellagitannin isolated from the dried flower buds of Eugenia caryophyllata. It exhibits alpha-glucosidase inhibitory activity and antiviral activity against acyclovir and phosphonoacetic acid (PAA)-resistant herpes simplex virus type 1 (HSV-1) as well as the wild-type HSV-1.


Corilagin

An ellagitannin with a hexahydroxydiphenoyl group bridging over the 3-O and 6-O of the glucose core.


Procyanidin B2 3'-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'R)-hydroxy group of procyanidin B2.


procyanidin B1 3'-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'S)-hydroxy group of procyanidin B1.


procyanidin B3 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3S)-hydroxy group of procyanidin B3.


Theasinensin A

A biflavonoid that is obtained by coupling of two molecules of (-)-epigallocatechin 3-gallate resulting in a bond between positions C-2 of the hydroxyphenyl ring. It is a natural product found in oolong tea.


Macabarterin

A ellagitannin isolated  from the stem bark of Macaranga barteri and has been shown to exhibit anti-inflammatory activity.


procyanidin B1 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3R)-hydroxy group of procyanidin B1.


procyanidin B2 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3R)-hydroxy group of procyanidin B2.


A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'R)-hydroxy group of (-)-epicatechin-(4alpha->8)-(-)-epicatechin.


multiple congenital anomalies-hypotonia-seizures syndrome 3

A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.


Cranial Nerve II Palsy

Partial or complete paralysis of the optic nerve.


Non-Neoplastic Optic Nerve Disorder

A non-neoplastic disorder that affects the optic nerve.


Unilateral Optic Nerve Hypoplasia

A congenital abnormality characterized by the underdevelopment of one optic nerve.


steroid sulfate

A sulfuric ester obtained by the formal condensation of a hydroxy group of any steroid with sulfuric acid.


cAMP-specific 3',5'-cyclic phosphodiesterase 4D isoform hN3 (human)

A cAMP-specific 3',5'-cyclic phosphodiesterase 4D (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:Q08499-7.


cataract 33

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.


Grade 1 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Generalized or Specific Area Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Lower Extremity Muscle Weakness, CTCAE Not Due to Neuropathy


Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Upper Extremity Muscle Weakness, CTCAE Not Due to Neuropathy


Grade 1 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Multiple Solitary Plasmacytoma of Bone

The presence of more than one plasmacytoma arising in the bone, concurrently or sequentially, in the absence of bone marrow involvement by plasma cell myeloma.


protein-tyrosine kinase 6 isoform h2 (human)

A protein-tyrosine kinase 6 (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:Q13882-2.


chlorocycloalkane

A chlorohydrocarbon that is any cycloalkane substituted by at least one chloro group.


chlorocyclohexane

Any chlorocycloalkane that is cyclohexane substituted by at least one chlorine group.


Disrupted Suture

The loss of tension or continuity of sutures.


glutamate receptor 1 isoform Flip (rat)

A glutamate receptor 1 (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:P19490-2.


ovarian microcystic stromal tumor

A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.


benign ovarian sex cord-stromal tumor

A sex cord-stromal tumor arising from the ovary, without metastatic potential.


ovarian fibrothecoma

A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).


motilin receptor isoform A (human)

A motilin receptor (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:O43193-1.


phyllodes tumor

A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.


prostate phyllodes tumor

An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.


Borderline Vulvar Phyllodes Tumor

A rare borderline phyllodes tumor arising from the vulva.


benign prostate phyllodes tumor

A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.


Phyllodes Tumor of Anogenital Mammary-Type Glands

A rare phyllodes tumor that arises from mammary-like glands in the anogenital region.


Malignant Vulvar Phyllodes Tumor

A rare malignant phyllodes tumor arising from the vulva.


benign phyllodes tumor

A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.


malignant phyllodes tumor

A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.


Benign Vulvar Phyllodes Tumor

A rare benign phyllodes tumor arising from the vulva.