ulna metaphyseal dysplasia syndrome

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.


radiation myelitis

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A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.


variant Creutzfeldt-Jakob disease

A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.


echinococcosis

A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.


facioscapulohumeral muscular dystrophy 2

Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.


autosomal recessive spastic paraplegia type 68


Leber congenital amaurosis 16

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.


genito-palato-cardiac syndrome

Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.


isolated growth hormone deficiency, type 5


Treacher Collins syndrome 2

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.


autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.


X-linked intellectual disability, Sutherland-Haan type


hereditary spastic paraplegia 35

Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.


syndromic X-linked intellectual disability Nascimento type

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.


Sagliker syndrome

A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face


Cole-Carpenter syndrome 1

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.


chromosome 15q13.3 microdeletion syndrome

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.


atrial septal defect 3

Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.


immune system cancer

A malignant neoplasm involving the immune system


X-linked intellectual disability, Schutz type


poliovirus infection

An disease or disorder caused by infection with Enterovirus C.


brachyolmia, Maroteaux type

Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.


intellectual disability, autosomal dominant 52


intellectual disability, autosomal recessive 23


corticobasal degeneration disorder

A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.


white piedra

A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.


Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.


generalized galactose epimerase deficiency


Bartholin gland neoplasm

A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.


B cell linker protein deficiency

A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.


Meier-Gorlin syndrome 3

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.


torsion dystonia 2

Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.


hypogonadotropic hypogonadism 23 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.


delusional disorder

A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).


adult myxoid chondrosarcoma

A myxoid chondrosarcoma occurring in adults.


autosomal recessive cerebellar ataxia-blindness-deafness syndrome


X-linked mandibulofacial dysostosis

X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.


renal tubular acidosis, distal, 4, with hemolytic anemia

Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.


This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.


acute myeloid leukemia, inv(3)(q21.3;q26.2)

Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


eyelid neoplasm

A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.


polyclonal hypergammaglobulinemia

A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.


genetic alopecia

An instance of alopecia that is caused by a modification of the individual's genome.


refractory anemia with excess blasts in transformation

Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.


Queensland tick typhus

A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.


Bacteroidaceae infectious disease

Infections with bacteria of the family BACTEROIDACEAE.


malignant mixed epithelial and mesenchymal tumor of cervix uteri


renal tubular transport disease

Genetic defects in the selective or non-selective transport functions of the kidney tubules.


acquired factor VII deficiency

An acquired coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.


Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.


acquired coagulation factor deficiency

Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.


EGF-related primary hypomagnesemia with intellectual disability


autosomal recessive nonsyndromic hearing loss 27

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.


COG8-congenital disorder of glycosylation

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.


pleural disorder

A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.


lesion of sciatic nerve

A peripheral nerve lesion that involves the sciatic nerve.


intellectual disability, autosomal recessive 13

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.


premature ovarian failure 9

Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.


exhibitionism

A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.


grade III lymphomatoid granulomatosis

A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.


Fanconi anemia complementation group R

Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.


decompression sickness

A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.


familial hypoaldosteronism

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).


hereditary nephritis

A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.


xeroderma pigmentosum group A

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.


ventricular septal defect 3

Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.


severe hemophilia A

Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


tricho-retino-dento-digital syndrome

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.


acute disseminated encephalomyelitis without anti-MOG antibodies


split hand-foot malformation 6

Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.


maxillary sinusitis

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


Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.


Y chromosome infertility due to DAZ1 deletion


neonatal severe primary hyperparathyroidism

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.


progeroid and marfanoid aspect-lipodystrophy syndrome


iatrogenic disease

Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.


5q35 microduplication syndrome

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.


aortic aneurysm, familial thoracic 6

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.


inherited thyroid metabolism disease

An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.


neurodevelopmental disorder with dysmorphic facies and variable seizures


aleukemic leukemia

A leukemia characterized by the absence of leukemic cells in the peripheral blood.


Fanconi anemia complementation group Q

Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.


retinitis pigmentosa 18

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.


microcephaly 23, primary, autosomal recessive


Niemann-Pick disease, type C1

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.


Adams-Oliver syndrome 1

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.


This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.


otorhinolaryngologic disease

Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.


organophosphate poisoning

A poisoning that is caused by exposure to organophosphate.


lacrimal duct cancer

A primary or metastatic malignant neoplasm affecting the lacrimal duct.


spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant


EEM syndrome

EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).


distal trisomy 19q

Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.


trochlear nerve neoplasm

A neoplasm involving a trochlear nerve.


hereditary spastic paraplegia 38

A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.


lichen planopilaris

Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.


nasal cavity disorder

A disease involving the nasal cavity.


Actinobacillus infectious disease

Infections with bacteria of the genus actinobacillus.


Epstein-Barr virus-associated mesenchymal tumor


chronic inflammation of lacrimal passage


partial duplication of the long arm of chromosome 17


mitochondrial DNA depletion syndrome

The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.


glycoprotein metabolism disease

A disease that has its basis in the disruption of glycoprotein metabolic process.


immunodeficiency 63 with lymphoproliferation and autoimmunity


Pelizaeus-Merzbacher disease, classic form

The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.


polyp of frontal sinus

A polyp that involves the frontal sinus.


pontocerebellar hypoplasia type 1A

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.


hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.


disorder of organic acid metabolism

A disease that has its basis in the disruption of organic acid metabolic process.


spinal muscular atrophy, type II

Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


trichodental syndrome

Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.


Uner Tan Syndrome

A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.


splenic tuberculosis

Infection of the spleen with species of mycobacterium.


IgG4-related disease

A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.


familial thyroglossal duct cyst

Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.


periapical periodontitis

Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.


IRIDA syndrome

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.


melanoacanthoma

A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.


erythrocytosis, familial, 4

Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.


central nervous system calcification-deafness-tubular acidosis-anemia syndrome

This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.


coenzyme Q10 deficiency, primary, 3

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.


glycogen storage disease due to GLUT2 deficiency

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.


OSLAM syndrome

OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.


autoimmune lymphoproliferative syndrome type 2B

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.


spinocerebellar ataxia, autosomal recessive 28


metabolic epilepsy

Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.


partial deletion of the long arm of chromosome 3


adenomatoid odontogenic tumor

A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.


nystagmus 2, congenital, autosomal dominant


oocyte maturation defect 2

Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.


anterior segment developmental abnormality with extraocular manifestations


infantile glycine encephalopathy

Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.


congenital rubella syndrome

An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.


atactic disorder

A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.


MED12-related intellectual disability syndrome

An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.


infectious myositis

An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.


early-onset cerebellar ataxia with retained tendon reflexes

Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.


peeling skin syndrome 5

Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.


late-onset junctional epidermolysis bullosa

Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.


bladder benign neoplasm

A benign abnormal growth of the cells that comprise the bladder.


mesenchymoma

A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


autosomal recessive Stickler syndrome

A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.


oculocerebrofacial syndrome, Kaufman type


Joubert syndrome and related disorders

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.


retinitis pigmentosa 61

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.


neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


negative rheumatoid factor polyarthritis


factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor


autosomal dominant pseudohypoaldosteronism type 1

Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.


isolated right ventricular hypoplasia

Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.


congenital disorder of glycosylation with defective fucosylation


mosaic trisomy 17

Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.


MERTK-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the MERTK gene.


spinocerebellar ataxia type 5

Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.


xeroderma pigmentosum group F

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.


silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).


Charcot-Marie-Tooth disease, demyelinating, IIA 1H


main bronchus cancer

A malignant neoplasm involving the main bronchus.


African iron overload

African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.


testicular non-seminomatous germ cell tumor

A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.


craniosynostosis cleft lip palate arthrogryposis


childhood testicular mixed germ cell cancer

A malignant mixed germ cell neoplasm that arises from the testis during childhood.


eosinophilic meningitis

Meningitis in which eosinophils predominate in the cerebrospinal fluid.


A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.


Cayman type cerebellar ataxia

Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.


spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type


mosaic variegated aneuploidy syndrome 1

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.


acute myeloid leukemia with t(8;16)(p11;p13) translocation

A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.


mitochondrial myopathy with reversible cytochrome C oxidase deficiency


postlingual non-syndromic genetic hearing loss

Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.


Circumscribed Morphea

A type of morphea in which the lesions are circular or ovoid, and may be superficial or deep. The superficial lesions can have an indurated, waxy, ivory colored center with surrounding erythema or violaceous color during the active stage. Deep lesions can be sclerotic and depressed from underlying atrophy, and may show minimal skin color changes. When there are several (greater than or equal to 4), larger (greater than 3cm) lesions on two or more body areas this is classified as "generalized morphea".


Plaque morphea

Circumscribed morphea in which the lesions are restricted to the skin and the immediately underlying subcutaneous tissues.


Deep Circumscribed Morphea

Circumscribed morphea in which the lesions are found in the deep dermis, panniculus, fascia, or superficial muscle.


Unresectable Skin Squamous Cell Carcinoma

Skin squamous cell carcinoma that is not amenable to surgical resection.


Unresectable Skin Carcinoma

Skin carcinoma that is not amenable to surgical resection.


Unresectable Skin Basal Cell Carcinoma

Basal cell carcinoma of the skin that is not amenable to surgical resection.


Unresectable Merkel Cell Carcinoma

Merkel cell carcinoma that is not amenable to surgical resection.


Incongruent Visual Field Defect

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

Non-identically shaped visual field defect in the same location in both eyes.


Central Visual Field Defect

Reduced or abnormal sight in the central visual field.


Peripheral visual field defect

Reduced or abnormal sight in the peripheral visual field.


Homonymous Visual Field Defect

A bilateral visual field defect on the same side of visual space of each eye (right or left).


Heteronymous Visual Field Defect

A bilateral visual field defect on opposite sides of the visual space of each eye (right or left).


Congruent Visual Field Defect

Identically shaped visual field defect in the same location in both eyes.


Conduction Abnormality and Atrioventricular Heart Block, CTCAE


Grade 1 Mobitz Type I, CTCAE

Asymptomatic, intervention not indicated


Grade 3 Sick Sinus Syndrome, CTCAE

Symptomatic, intervention indicated


Grade 3 Mobitz Type I, CTCAE

Symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker)


Grade 4 Conduction Abnormality NOS, CTCAE


Grade 5 Asystole, CTCAE

Death


Grade 1 Wolff-Parkinson-White Syndrome, CTCAE


Grade 2 Mobitz (Type) II Atrioventricular Block, CTCAE

Symptomatic; medical intervention indicated


Grade 1 Asystole, CTCAE

Periods of asystole; non-urgent medical management indicated


Grade 1 Mobitz (Type) II Atrioventricular Block, CTCAE


Grade 5 Wolff-Parkinson-White Syndrome, CTCAE


Grade 2 Conduction Abnormality NOS, CTCAE


Grade 3 Wolff-Parkinson-White Syndrome, CTCAE


Grade 5 Sick Sinus Syndrome, CTCAE

Death


Grade 5 Conduction Abnormality NOS, CTCAE


Grade 3 Conduction Abnormality NOS, CTCAE


Grade 4 Mobitz (Type) II Atrioventricular Block, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 1 Conduction Abnormality NOS, CTCAE


Mobitz Type I, CTCAE

A disorder characterized by a dysrhythmia with a progressively lengthening PR interval prior to the blocking of an atrial impulse. This is the result of intermittent failure of atrial electrical impulse conduction through the atrioventricular (AV) node to the ventricles.


Sick Sinus Syndrome, CTCAE

A disorder characterized by a dysrhythmia with alternating periods of bradycardia and atrial tachycardia accompanied by syncope, fatigue and dizziness.


Grade 2 Wolff-Parkinson-White Syndrome, CTCAE


Grade 2 Sick Sinus Syndrome, CTCAE

Symptomatic, intervention not indicated; change in medication initiated


Mobitz (Type) II Atrioventricular Block, CTCAE

A disorder characterized by a dysrhythmia with relatively constant PR interval prior to the block of an atrial impulse. This is the result of intermittent failure of atrial electrical impulse conduction through the atrioventricular (AV) node to the ventricles.


Grade 4 Wolff-Parkinson-White Syndrome, CTCAE


Grade 5 Mobitz Type I, CTCAE

Death


Grade 3 Mobitz (Type) II Atrioventricular Block, CTCAE

Symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker); new onset


Grade 5 Mobitz (Type) II Atrioventricular Block, CTCAE

Death


alpha-L-fructopyranose

A L-fructopyranose with an alpha-configuration at the anomeric position.


Small Intestinal Small Cell Neuroendocrine Carcinoma

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


Grade 3 Lower Extremity Artery Injury, CTCAE


N-acylammonia

A carboxamide obtained by the formal condensation of the carboxy group of any carboxylic acid with ammonia.


A pyrazinecarboxamide in which a 6-oxo-1,6-dihydropyrazine nucleus is substituted on C-5 by a 4-hydroxyphenyl group and on C-2 by a butylcarbamyl group. A synthetic determinant of cefadroxil, it is a promising tool for determining in vitro cross-reactivity to cefadroxil in amoxicillin-allergic patients.


Grade 5 Colon Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 3 Pelvic Floor Muscle Weakness, CTCAE

Severe symptoms; limiting self care ADL


Foradil

An N-[2-hydroxy-5-(1-hydroxy-2-{[1-(4-methoxyphenyl)propan-2-yl]amino}ethyl)phenyl]formamide in which both of the stereocentres have S configuration.


Moderate Cardiac Valve Stenosis

The cardiac valve orifice is abnormally narrow, to a moderate degree. (ACC)


Grade 5 Renal Hemorrhage, CTCAE

Death


Grade 5 Toxic Epidermal Necrolysis, CTCAE

Death


Hemorrhage of rectum and anus

Bleeding originating from the rectal wall and anus.


A benzamide obtained by formal condensation of the carboxy group of 5-chloro-2-methoxy-4-(methylamino)benzoic acid with the amino group of 1-benzyl-2-methylpyrrolidin-3-amine.


An N-alkylpyrrolidine that consists of N-methylpyrrolidine bearing a pyridin-3-yl substituent at position 2.


Grade 2 Edema Limbs, CTCAE

>10-30% inter-limb discrepancy in volume or circumference at point of greatest visible difference; readily apparent obscuration of anatomic architecture; obliteration of skin folds; readily apparent deviation from normal anatomic contour; limiting instrumental ADL


Grade 3 Pancreatic Fistula, CTCAE

Invasive intervention indicated


Desmoplastic Neurotropic Melanoma

A desmoplastic melanoma characterized by the presence of nerve infiltration by atypical spindled melanocytes.


Ann Arbor Stage I AIDS-Related Lymphoma

Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).


Magnesium ammonium phosphate urolithiasis

Urolithiasis in which the composition of the stone(s) is predominantly magnesium ammonium phosphate.


Grade 5 Bronchial Infection, CTCAE

Death


Stage IIIB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

Stage IIIB includes: T3b, N0, M0. T3b: Uterine corpus endometrial stroma sarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Grade 3 Cranial Nerve XI Neuropathy, CTCAE


Grade 3 Urethra Intra-Operative Injury, CTCAE


Stage IIIB Colon Cancer AJCC v8

Stage IIIB includes: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Stage III Colon Cancer AJCC v8

Stage III includes: IIIA: (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIIC Colon Cancer AJCC v8

Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIIA Colon Cancer AJCC v8

Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Grade 1 Abdominal Pain, CTCAE

Mild pain


Abdominal Pain, CTCAE

A disorder characterized by a sensation of marked discomfort in the abdominal region.


Grade 2 Abdominal Pain, CTCAE

Moderate pain; limiting instrumental ADL


Grade 3 Abdominal Pain, CTCAE

Severe pain; limiting self care ADL


Grade 3 Testicular Hemorrhage, CTCAE

Transfusion indicated; invasive intervention indicated; hospitalization


diester

A diester is a compound containing two ester groups.


(r)-Malathion

A diethyl 2-[(dimethoxyphosphorothioyl)thio]succinate that is the R-enantiomer of malathion.


(S)-Nisoldipine

A methyl 2-methylpropyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate that has S configuration.


(S)-Malathion

A diethyl 2-[(dimethoxyphosphorothioyl)thio]succinate that is the S-enantiomer of malathion.


(S)-bitolterol

The (S)-enantiomer of bitolterol.


(R)-Nisoldipine

A methyl 2-methylpropyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate that has R configuration.


(R)-Nicardipine

The R-enantiomer of nicardipine.


(R)-bitolterol

The (R)-enantiomer of bitolterol.


Clinical Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IIA includes: T1, N1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Ectopic Meningioma

A meningothelial neoplasm that arises from an anatomic site outside the intracranial and intraspinal compartments.


Primary Middle Ear Meningioma

A rare extracranial meningioma that arises from the middle ear.


Primary Sinonasal Meningioma

A rare extracranial meningioma that arises from the sinonasal tract.


Grade 3 Seizure, CTCAE

New onset seizures (partial or generalized); multiple seizures despite medical intervention


Muscle Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


Grade 3 Muscle Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


Grade 2 Muscle Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


Grade 5 Muscle Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


Grade 4 Muscle Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


Grade 2 Hepatic Artery Intra-Operative Injury, CTCAE


Grade 2 Trismus, CTCAE

Decreased ROM requiring small bites, soft foods or purees


Hodgkin's disease mixed cellularity stage II subdiaphragmatic


Ann Arbor Stage II Mixed Cellularity Classic Hodgkin Lymphoma

Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).


Hodgkin's disease mixed cellularity stage II supradiaphragmatic


Grade 1 Throat and Pharynx and Larynx Pain, CTCAE


delta-Tocotrienol

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2 and 8 and a farnesyl chain at position 2.


chromanol

Any member of the class of chromanes that is chromane substituted by one or more hydroxy groups.


The (S,R,S)-stereoisomer of alpha-tocopherol.


beta-Tocotrienol

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2, 5 and 8 and a farnesyl chain at position 2. It has been isolated from various cultivars of wheat.


The (R,R,S)-stereoisomer of alpha-tocopherol.


alpha-tocopherol

A tocopherol that is chroman-6-ol substituted by methyl groups at positions 2, 5, 7 and 8 and a 4,8,12-trimethyltridecyl group at position 2.


gamma-Tocopherol

A tocopherol in which the chroman-6-ol core is substituted by methyl groups at positions 7 and 8. It is found particularly in maize (corn) oil and soya bean (soybean) oils.


delta-Tocopherol

A tocopherol in which the chroman-6-ol core is substituted by a methyl group at position 8. It is found particularly in maize (corn) oil and soya bean (soybean) oils.


(S,S,R)-alpha-Tocopherol

The (S,S,R)-stereoisomer of alpha-tocopherol.


(R,S,R)-alpha-Tocopherol

The (R,S,R)-stereoisomer of alpha-tocopherol.


tocol

A chromanol with a chroman-6-ol skeleton that is substituted at position 2 by a saturated or triply-unsaturated hydrocarbon chain consisting of three isoprenoid units.


TOCOPHEROL

A collective name for a group of closely related lipids that contain a chroman-6-ol nucleus substituted at position 2 by a methyl group and by a saturated hydrocarbon chain consisting of three isoprenoid units. They are designated as alpha-, beta-, gamma-, and delta-tocopherol depending on the number and position of additional methyl substituents on the aromatic ring. Tocopherols occur in vegetable oils and vegetable oil products, almost exclusively with R,R,R configuration. Tocotrienols differ from tocopherols only in having three double bonds in the hydrocarbon chain.


alpha-Tocotrienol

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2, 5, 7 and 8 and a farnesyl chain at position 2. It has been found in palm oil derived from Elaeis guineensis.


beta-Tocopherol

A tocopherol in which the chroman-6-ol core is substituted by methyl groups at positions 5 and 8. While it is found in low concentrations in many vegetable oils, only cottonseed oil contains significant amounts.


(-)-alpha-Tocopherol

The (S,S,S)-stereoisomer of alpha-tocopherol.


(S,R,R)-alpha-Tocopherol

The (S,R,R)-stereoisomer of alpha-tocopherol.


Aquasol E

The (R,S,S)-stereoisomer of alpha-tocopherol.


gamma-Tocotrienol

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2, 7 and 8 and a farnesyl chain at position 2. A vitamin E family member that has potent anti-cancer properties against a wide-range of cancers.


Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma

An endometrial endometrioid adenocarcinoma characterized by mismatch repair (MMR) deficiency caused by inactivating methylation or less frequently mutation of an MMR gene (MLH1, PMS2, MSH2, or MSH6).


Grade 2 Kidney Infection, CTCAE

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


Stent restenosis

Fifty percent or greater stenosis within an existing stent. (ACC)


Uterine Corpus Neuroendocrine Tumor G1

A very rare and well-differentiated neuroendocrine tumor that arises from the uterine corpus.


Stress ulcer

An ulcer due to stress.


Malignant neoplasm of exocervix

A malignant neoplasm that affects the exocervix.


Grade 5 Cervix Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


Grade 5 Superior Vena Cava Vein Injury, CTCAE


carboxamidine

Compounds having the structure RC(=NR)NR2. The term is used as a suffix in systematic nomenclature to denote the -C(=NH)NH2 group including its carbon atom.


formamidines

Amidines with the general formula R(1)N=CHNR(2)R(3) (R(1), R(2), R(3) can be H).


Grade 1 Wrist Fracture, CTCAE

Mild; non-operative intervention indicated


Grade 5 Anus Stricture or Stenosis, CTCAE


Grade 3 Erythroderma, CTCAE

Erythema covering >90% BSA with associated symptoms (e.g., pruritus or tenderness); limiting self care ADL


Erythroderma, CTCAE

A disorder characterized by generalized inflammatory erythema and exfoliation. The inflammatory process involves > 90% of the body surface area.


Grade 4 Erythroderma, CTCAE

Erythema covering >90% BSA with associated fluid or electrolyte abnormalities; ICU care or burn unit indicated


Grade 2 Erythroderma, CTCAE

Erythema covering >90% BSA without associated symptoms; limiting instrumental ADL


Grade 5 Erythroderma, CTCAE

Death


Genital Human Papillomavirus Infection

Infection of the genitalia by human papillomavirus.


Iatrogenic Hypoparathyroidism

Hypoparathyroidism resulting from medical treatment or intervention.


Acquired Hypoparathyroidism

Hypoparathyroidism, the cause of which is not present at birth.


Hypoparathyroidism, Autosomal Recessive

Hypoparathyroidism associated with homozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb.


Transient neonatal hypoparathyroidism

A disorder of decreased production of parathyroid hormone by the parathyroid gland in a newborn. It is due to maternal hyperparathyroidism. It may be characterized by hypocalcemic seizures in the first weeks of life.


Primary hypoparathyroidism

Abnormally low levels of parathyroid hormone due to a disorder originating within the parathyroid glands.


Grade 4 Fibrosis-Deep Connective Tissue, CTCAE


Circumscribed storiform collagenoma

A benign skin tumor characterized as a small, dome-shaped dermal nodule composed of fibroblasts in a dense collagenous background with storiform organization.  Rarely, multiple lesions can occur in connection with Cowden's disease.


Senile nevus

A benign skin lesion consisting of a cluster of capillaries at the surface of the skin, forming a red papular lesion.


chlorobenzophenone

A member of the class of benzophenones that is any substituted benzophenone in which at least one of the substituents is a chlorine.


organosilicon compound

An organosilicon compound is a compound containing at least one carbon-silicon bond.


organosiloxane

A siloxane where Si is substituted with organyl groups.


Grade 2 Mediastinum Infection NOS with Unknown Absolute Neutrophil Count, CTCAE


Grade 1 Feeding Intolerance, AE

An adverse event in a newborn characterized by mild feeding intolerance (e.g. increased gastric residual volume or abdominal distension); without discomfort; no change in care indicated.


AFP Level Finding

A finding that indicates the amount of alpha-fetoprotein tumor marker in a sample.


anilines

Any  aromatic amine that is benzene carrying at least one amino substituent and its substituted derivatives.


Mosapride, (R)-

A 4-amino-5-chloro-2-ethoxy-N-({4-[(4-fluorophenyl)methyl]morpholin-2-yl}methyl)benzamide that has (R)-configuration.


(R)-aminoglutethimide

The (3R)-enantiomer of aminoglutethimide.


A 4-amino-5-chloro-2-ethoxy-N-({4-[(4-fluorophenyl)methyl]morpholin-2-yl}methyl)benzamide that has (S)-configuration.


fluorenes

An ortho-fused polycyclic arene in which the skeleton is composed of two benzene rings ortho-fused to cyclopentane.


Primary Insomnia

A sleep disorder characterized by difficulty initiating or maintaining sleep; this difficulty does not occur in the context of another sleep disorder and is not etiologically linked to a mental disorder, substance use, or a general medical condition.


tetrol

A polyol that contains 4 hydroxy groups.


A hydroxycalciol that is a synthetic fluorinated and deuterated analogue of vitamin D3 which exhibits vitamin D receptor superagonist and anti-cancer activity.


1alpha,23(S),25-trihydroxyvitamin D3

A hydroxycalciol that consists of vitamin D3 (calciol) bearing additional hydroxy substituents at positions 1, 23 and 25 (with 1alpha,23S-configuration). An intermediate in the degradation pathway of 1alpha,25-(OH)2D3.


(20S,23,24)-trihydroxyvitamin D3

A hydroxycalciol that consists of vitamin D3 (calciol) carrying additional hydroxy groups  at positions 20 (with S-configuration), 23 and 24.


A vitamin D that is 19-norcalcitriol carrying an additional 3-hydroxypropyl substituent at position 2. A synthetic analogue of vitamin D, it exhibits anticancer properties.


Nordihydroguaiaretic acid

A tetrol that is butane which is substituted at positions 2 and 3 by 3,4-dihydroxybenzyl groups. Masoprocol, the meso-form found in the leaves of the creosote bush (Larrea divaricata), is a potent lipoxygenase inhibitor.


(20S,23,25)-trihydroxyvitamin D3

A hydroxycalciol that consists of vitamin D3 (calciol) carrying additional hydroxy groups at positions 20 (with S-configuration), 23 and 25.


A hydroxycalciol that is calcitriol with a 4-hydroxybutoxy group at position 2.


Cor triloculare

A congenital anatomic anomaly in which the heart has only three chambers.


Grade 5 Urostomy Leak, CTCAE

Death


Splenic Manifestation of Chronic Lymphocytic Leukemia

Infiltration of the spleen by chronic lymphocytic leukemia. It primarily involves the white pulp.


Kaposi's sarcoma of oral cavity

Kaposi sarcoma arising from the oral cavity.


Parotid Gland Lipoma

A lipoma that arises from the parotid gland.


Grade 1 Irregular Menstruation, CTCAE

Intermittent/irregular menses for no more than 3 consecutive menstrual cycles


Pyrazine

A diazine that is benzene in which the carbon atoms at positions 1 and 4 have been replaced by nitrogen atoms.


An  oxazolidinone that is 1,3-oxazolidine with an oxo substituent at position 2.


Grade 3 Headache, CTCAE

Severe pain; limiting self care ADL


Headache, CTCAE

A disorder characterized by a sensation of marked discomfort in various parts of the head, not confined to the area of distribution of any nerve.


Grade 1 Headache, CTCAE

Mild pain


Grade 2 Headache, CTCAE

Moderate pain; limiting instrumental ADL


Gastric Anastomotic Leakage

Leakage due to breakdown of a gastric anastomosis.


azulenes

Any carbobicyclic compound whose skeleton consists of a cyclopentane ring ortho-fused to a cycloheptane ring.


Ann Arbor Stage I Lymphocyte-Depleted Classic Hodgkin Lymphoma

Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).


Ann Arbor Stage I Supradiaphragmatic Lymphocyte-Depleted Classic Hodgkin Lymphoma


Ann Arbor Stage I Subdiaphragmatic Lymphocyte-Depleted Classic Hodgkin Lymphoma


Diaper candidiasis

An inflammatory skin condition in the diaper area superimposed with Candida infection, characterized by a bright red rash with a sharply demarcated edge and satellite lesions. Skin folds are often involved.


Grade 4 Arachnoiditis, CTCAE

Life-threatening consequences; urgent intervention indicated


Stage IB Adult Soft Tissue Sarcoma AJCC v7


Grade 3 Skin Breakdown or Decubitus Ulcer, CTCAE


Grade 3 Anal Pain, CTCAE

Severe pain; limiting self care ADL


Grade 1 Pyramidal Tract Dysfunction, CTCAE


Midgut Neuroendocrine Tumor G1

A well-differentiated, low grade neoplasm with neuroendocrine differentiation that arises from the jejunum, ileum, proximal colon, or appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


Meckel Diverticulum Neuroendocrine Tumor G1

A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises in a Meckel diverticulum.


Psoralen and long-wave ultraviolet radiation (PUVA) keratosis

A hyperkeratotic skin lesion that occurs in patients with a history of prolonged exposure to psoralen and ultraviolet A (PUVA) therapy.


Grade 5 Intestinal Stoma Obstruction, CTCAE

Death


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


L-Mannitol

The L-enantiomer of mannitol.


Oral Cavity Mucosal Melanoma

A rare melanoma that arises from the oral cavity. It is associated with a poor prognosis.


Neonatal Tachyarrhythmia, AE

An adverse event in a newborn characterized by non-sinus rhythm with an abnormally high heart rate for age.


Grade 4 Neonatal Tachyarrhythmia, AE

A tachyarrhythmia adverse event in a newborn characterized by life-threatening consequences (e.g. shock); requiring urgent major care changes.


Grade 5 Neonatal Tachyarrhythmia, AE

A tachyarrhythmia adverse event in a newborn which results in death.


Grade 3 Neonatal Tachyarrhythmia, AE

A tachyarrhythmia adverse event in a newborn resulting in non-life threatening hemodynamic compromise or changes in age-appropriate behavior; requiring major care changes (e.g. new medication or intervention).


Grade 2 Neonatal Tachyarrhythmia, AE

A tachyarrhythmia adverse event in a newborn characterized by no change in age-appropriate behavior; requiring minor care changes (e.g. increased monitoring).


Grade 1 Neonatal Tachyarrhythmia, AE

An adverse event in a newborn characterized by brief, self-limiting, episodes of asymptomatic tachyarrhythmia (e.g. extra-systolic beats); no care changes.


Benign Adult Brain Stem Neoplasm

A benign neoplasm of the brain stem occurring in adults.


Medullary Hemangioblastoma

A hemangioblastoma that arises from the medulla oblongata. It may be associated with von Hippel-Lindau disease.


Childhood Brain Stem Gliosarcoma

A gliosarcoma that arises from the brain stem and occurs during childhood.


Recurrent Childhood Brain Stem Astrocytoma

The reemergence of brain stem astrocytoma in childhood after a period of remission.


Childhood Brain Stem Mixed Glioma

A mixed glioma that arises from the brain stem and occurs during childhood.


Metastatic malignant neoplasm to brain stem

A malignant neoplasm that has spread from its original site of growth to the brain stem.


Recurrent Childhood Brain Stem Glioma

The reemergence of brain stem glioma in childhood after a period of remission.


Anaplastic Brain Stem Astrocytoma

An anaplastic astrocytoma that arises from the brain stem.


Brain Stem Glioblastoma

A glioblastoma that arises from the brain stem.


Anaplastic Brain Stem Glioma

An anaplastic glioma that arises from the brain stem.


Grade 5 External Ear Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Recurrent Acute Bilineal Leukemia

The reemergence of acute bilineal leukemia after a period of remission.


Recurrent Mixed Phenotype Acute Leukemia

The reemergence of mixed phenotype acute leukemia after a period of remission.


acute biphenotypic leukemia in relapse

The reemergence of acute biphenotypic leukemia after a period of remission.


Grade 4 Oral Cavity NOS Intra-Operative Injury, CTCAE


Grade 3 Glaucoma, CTCAE

EIOP causing visual field deficits


Grade 4 Hypomagnesemia, CTCAE

<0.7 mg/dL; <0.3 mmol/L; life-threatening consequences


Ampulla of Vater Neuroendocrine Tumor G3

A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the ampulla of Vater and the periampullary region. The Ki-67 index is higher than 20%.


Low Risk Small Intestinal Gastrointestinal Stromal Tumor


Low Risk Esophageal Gastrointestinal Stromal Tumor


Low Risk Colorectal Gastrointestinal Stromal Tumor


Low Risk Gastric Gastrointestinal Stromal Tumor


Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type

A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form thin-branching papillae and exhibit high grade dysplasia.


Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type

A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that are similar to gastric foveolar epithelial cells.


Branch Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm

An intraductal papillary-mucinous neoplasm of the pancreas that arises in one of the branches of the main pancreatic duct.  It usually has an indolent behavior.


Mixed Type Pancreatic Intraductal Papillary-Mucinous Neoplasm

An intraductal papillary-mucinous neoplasm of the pancreas that arises primarily from the main pancreatic duct and extends to the branch ducts.


Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type

A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells with abundant eosinophilic granular cytoplasm.


Main Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm

An intraductal papillary-mucinous neoplasm of the pancreas that arises from the main pancreatic duct.


Pancreatic Intraductal Papillary Mucinous Neoplasm, Intestinal-Type

A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form tall papillae, similar to those that are present in colonic villous adenomas.


Advanced Rhabdoid Tumor

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


Metastatic Rhabdoid Tumor

A rhabdoid tumor that has spread from the original site of growth to another anatomic site.


sialadenoma papilliferum of salivary gland

An uncommon exophytic papillary proliferation that involves mucosal surface epithelium and salivary duct epithelium. It is exceptional among salivary gland neoplasms because it manifests as an exophytic papillary excrescence of the mucosa, rather than as a submucosal or intraglandular mass. It most often affects the hard or soft palate.  It is generally asymptomatic.


Aurachin C

A C-type aurachin that is quinolin-4-one which is substituted by a hydroxy group at positions 1, a methyl group at position 2, and a triprenyl group at position 3.


Elevated Sedimentation Rate

A higher than average sedimentation rate in a sample.


Low Grade Malignant Peripheral Nerve Sheath Tumor

A malignant peripheral nerve sheath tumor that is low grade.


Grade 1 Genital Edema, CTCAE

Mild swelling or obscuration of anatomic architecture on close inspection


Grade 1 Bruising in the Absence of Grade 3 or Grade 4 Thrombocytopenia, CTCAE


Tentorial Tear Related to Birth

Disruption of the tentorium cerebelli incurred during delivery.


Grade 2 Pericardial Effusion, CTCAE

Asymptomatic effusion size small to moderate


Stage II Childhood Hodgkin Lymphoma

Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).


Carsickness

A sensation of discomfort associated with ground travel; symptoms may include nausea, vomiting, dizziness or sweating.


Grade 1 Appendix Intra-Operative Injury, CTCAE


Refractory Paranasal Sinus Squamous Cell Carcinoma

Paranasal sinus squamous cell carcinoma that does not respond to treatment.


Refractory Head and Neck Squamous Cell Carcinoma

A head and neck squamous cell carcinoma that does not respond to treatment.


Refractory Sinonasal Squamous Cell Carcinoma

Nasal cavity and paranasal sinus squamous cell carcinoma that does not respond to treatment.


Refractory Oral Cavity Squamous Cell Carcinoma

Oral cavity squamous cell carcinoma that does not respond to treatment.


Refractory Cutaneous Squamous Cell Carcinoma of the Head and Neck

Cutaneous squamous cell carcinoma of the head and neck that does not respond to treatment.


Hodgkin's lymphoma of small intestine

A Hodgkin lymphoma that arises from the small intestine.


Resectable Pancreatic Acinar Cell Carcinoma

Pancreatic acinar cell carcinoma that is amenable to surgical resection.


Pancreas carcinoma resectable

Carcinoma of the pancreas amenable to surgical removal.


Borderline Resectable Pancreatic Adenocarcinoma

A pancreatic adenocarcinoma term that refers to a continuum between resectable and locally advanced unresectable disease.


Pancreatic adenocarcinoma resectable

Pancreatic adenocarcinoma that is amenable to surgical resection.


Borderline Resectable Pancreatic Carcinoma

A pancreatic carcinoma term that refers to a continuum between resectable and locally advanced unresectable disease.


Resectable Pancreatic Ductal Adenocarcinoma

Pancreatic ductal adenocarcinoma amenable to surgical resection.


Resectable Pancreatic Adenosquamous Carcinoma

Pancreatic adenosquamous carcinoma that is amenable to surgical resection.


Stage I Lip and Oral Cavity Cancer AJCC v8

Stage I includes: T1, N0, M0.  T1: Tumor size 2 cm or less in greatest dimension and 5 mm or less depth of invasion (DOI).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 8th Ed.)


Grade 2 Parotid Gland Intra-Operative Injury, CTCAE


Hemolytic anemia due to disseminated intravascular coagulation


Anemia due to membrane defect

A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis.


Immune Hemolytic Anemia

An acquired anemia resulting from immune-mediated destruction of the red blood cells. Causes include autoimmune disorders, blood transfusions, and drugs.


Infantile pyknocytosis

A rare, neonatal syndrome characterized by early jaundice that becomes rapidly associated with severe hemolytic anemia. The peripheral blood smear is remarkable for small irregular, contracted red blood cells with hyper-dense spikes (pyknocytes), that progressively increase in number and then spontaneously disappear.


Angiocentric immunoproliferative lesion grade 2

Lymphomatoid granulomatosis characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.


Central Nervous System Lymphomatoid Granulomatosis

Lymphomatoid granulomatosis that affects the brain, spinal cord, and leptomeninges.


Cutaneous Lymphomatoid Granulomatosis

Lymphomatoid granulomatosis that affects the skin.


Childhood Lymphomatoid Granulomatosis

Lymphomatoid granulomatosis that occurs during childhood.


Grade 2 Fallopian Tube Obstruction, CTCAE

Symptomatic; elective intervention indicated


Fallopian Tube Obstruction, CTCAE 5.0

A disorder characterized by blockage of the normal flow of the contents in the fallopian tube.


Grade 1 Fallopian Tube Obstruction, CTCAE

Asymptomatic; clinical or diagnostic observations only; intervention not indicated


Grade 3 Fallopian Tube Obstruction, CTCAE

Severe symptoms; invasive intervention indicated


High Grade Anal Canal Intraepithelial Neoplasia

Intraepithelial neoplasia involving the anal canal.  The epithelial cells exhibit moderate dysplasia (grade II intraepithelial neoplasia) or severe dysplasia (grade III intraepithelial neoplasia or carcinoma in situ).


diphenylethane

Compounds containing two phenyl groups connected by an ethyl linker.


benzoins

An aromatic ketone containing a benzoin (2-hydroxy-1,2-diphenylethanone) skeleton.


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6

A lipid transport disorder characterized by extremely elevated levels of high density lipoprotein cholesterol (HDL C; HDLC). It is caused by heterozygous mutations in the SCARB1 gene that result in decreased transport of HCL C into the liver by scavenger receptor class B member 1.


Grade 3 Upper Extremity Vein Injury, CTCAE


carbonate ester

Any carbonate that is carbonic acid in which the hydrogens have been replaced by organyl groups.


Grade 4 Sinusoidal Obstruction Syndrome, CTCAE

Life-threatening consequences (e.g., ventilatory support, dialysis, plasmapheresis, peritoneal drainage)


(s)-Salmeterol

2-(Hydroxymethyl)-4-(1-hydroxy-2-{[6-(4-phenylbutoxy)hexyl]amino}ethyl)phenol in which the stereocentre has S configuration.


(r)-Salmeterol

2-(Hydroxymethyl)-4-(1-hydroxy-2-{[6-(4-phenylbutoxy)hexyl]amino}ethyl)phenol in which the stereocentre has R configuration.


Refractory Neuroblastoma

A neuroblastoma that does not respond to treatment.


Reactive Hyperplasia of the Retinal Pigment Epithelium

A reactive, non-neoplastic hyperplasia of the retinal pigment epithelium.


Grade 3 Neuroendocrine ACTH Deficiency, CTCAE


CPK Increased, CTCAE

A finding based on laboratory test results that indicate an increase in levels of creatine phosphokinase in a blood specimen.


Grade 4 CPK Increased, CTCAE

>10 x ULN


Grade 1 CPK Increased, CTCAE

>ULN-2.5 x ULN


Grade 2 CPK Increased, CTCAE

>2.5 x ULN-5 x ULN


Grade 2 Ovarian Infection, CTCAE

Localized; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)


Grade 5 Cranial Nerve VI Neuropathy, CTCAE


Grade 2 Bone Infection with Unknown Absolute Neutrophil Count, CTCAE


Bone Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 3 Bone Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 4 Bone Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 5 Bone Infection with Unknown Absolute Neutrophil Count, CTCAE


Iris Implantation Cyst

A cyst that arises from the iris and is lined by squamous epithelium.


Grade 2 Neonatal Pneumothorax, AE

An adverse event in a newborn characterized by radiological evidence of pneumothorax; minor clinical signs; minor care change required (e.g. oxygen, increased monitoring).


Grade 2 Bladder Infection with Unknown Absolute Neutrophil Count, CTCAE


Excessive Bleeding

Abnormally heavy or prolonged loss of blood.


Adult Leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, occurring in adults.  It is characterized by a proliferation of neoplastic spindle cells.


Penile Leiomyosarcoma

A leiomyosarcoma that occurs in the penis.


Unresectable Leiomyosarcoma

A leiomyosarcoma which is not amenable to surgical resection.


Dedifferentiated Leiomyosarcoma

A pleomorphic leiomyosarcoma that lacks immunohistochemical staining for myogenic markers in the pleomorphic areas.


Stage IVB Uterine Corpus Leiomyosarcoma AJCC v8

Stage IVB includes: Any T, Any N, M1. M1: M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)


Pancreatic Leiomyosarcoma

A rare leiomyosarcoma that arises from the pancreas.


Stage IIIA Uterine Corpus Leiomyosarcoma AJCC v8

Stage IIIA includes: T3a, N0, M0. T3a: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage I Uterine Corpus Leiomyosarcoma AJCC v8

Stage I includes: T1, N0, M0. T1: Uterine corpus leiomyosarcoma with tumor limited to the uterus. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IV Uterine Corpus Leiomyosarcoma AJCC v8

Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Uterine corpus leiomyosarcoma with tumor invading bladder or rectum. M0: No distant metastasis. M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)


Primary leiomyosarcoma

Leiomyosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.


EBV-Related Leiomyosarcoma

Leiomyosarcoma that is caused by Epstein-Barr virus infection.


Inferior Vena Cava Leiomyosarcoma

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


Metastatic leiomyosarcoma

A leiomyosarcoma that has spread to other anatomic sites.


leiomyosarcoma of appendix

A rare leiomyosarcoma that arises from the appendiceal wall.


Unresectable Soft Tissue Leiomyosarcoma

A soft tissue leiomyosarcoma that is not amenable to surgical resection.


Stage IVA Uterine Corpus Leiomyosarcoma AJCC v8

Stage IVA includes: T4, Any N, M0. T4: Uterine corpus leiomyosarcoma with tumor invading bladder or rectum. M0: No distant metastasis. (from AJCC 8th Ed.)


Conjunctival Leiomyosarcoma

A leiomyosarcoma that arises from the conjunctiva.


Stage IB Uterine Corpus Leiomyosarcoma AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Uterine corpus leiomyosarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Pleomorphic leiomyosarcoma

A leiomyosarcoma characterized by the presence of poorly differentiated areas with pleomorphic appearance, in addition to areas with typical morphologic features.


Leiomyosarcoma NCI Grade 2

A leiomyosarcoma with less than 15% necrosis.


Refractory Leiomyosarcoma

Leiomyosarcoma that does not respond to treatment.


Leiomyosarcoma of Vessels

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


leiomyosarcoma of bladder

A leiomyosarcoma that arises from the bladder. It is the most common type of bladder sarcoma in adults.


Broad Ligament Leiomyosarcoma

A rare leiomyosarcoma that arises from the broad ligament.


Unresectable Uterine Corpus Leiomyosarcoma

Uterine corpus leiomyosarcoma that is not amenable to surgical resection.


Advanced Soft Tissue Leiomyosarcoma

A soft tissue leiomyosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Stage IIIB Uterine Corpus Leiomyosarcoma AJCC v8

Stage IIIB includes: T3b, N0, M0. T3b: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Uterine Corpus Leiomyosarcoma by AJCC v8 Stage

A term that refers to the staging of uterine corpus leiomyosarcoma according to the American Joint Committee on Cancer, 8th edition.


Stage IIIC Uterine Corpus Leiomyosarcoma AJCC v8

Stage IIIC includes: T1-3, N1, M0. T1: Uterine corpus leiomyosarcoma with tumor limited to the uterus. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Childhood Leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, occurring in children.  It is characterized by a proliferation of neoplastic spindle cells.


Leiomyosarcoma recurrent

The reemergence of leiomyosarcoma after a period of remission


Locally Recurrent Uterine Corpus Leiomyosarcoma

The reemergence of uterine corpus leiomyosarcoma after a period of remission, at or adjacent to the site of the original tumor.


Stage III Uterine Corpus Leiomyosarcoma AJCC v8

Stage III includes: IIIA: T3a, N0, M0; IIIB: T3b, N0, M0; IIIC: T1-3, N1, M0. T1: Uterine corpus leiomyosarcoma with tumor limited to the uterus. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues. T3a: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at one site. T3b: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Thyroid Gland Leiomyosarcoma

A leiomyosarcoma that arises from the thyroid gland.


Metastatic Uterine Corpus Leiomyosarcoma

Uterine corpus leiomyosarcoma that has spread from its original site of growth to another anatomic site.


Locally Advanced Uterine Corpus Leiomyosarcoma

Uterine corpus leiomyosarcoma that has spread to nearby tissues or lymph nodes.


Colorectal Leiomyosarcoma

An aggressive malignant smooth muscle neoplasm that arises from the colon or rectum.  It is characterized by a proliferation of neoplastic spindle cells.


Metastatic Soft Tissue Leiomyosarcoma

A soft tissue leiomyosarcoma that has spread from the original site of growth to another anatomic site.


Sinonasal Leiomyosarcoma

A leiomyosarcoma that arises from the nasal cavity and paranasal sinuses.


Well Differentiated Leiomyosarcoma

Grade I malignant smooth muscle neoplasm.  It is characterized by a proliferation of neoplastic spindle cells.


Stage IA Uterine Corpus Leiomyosarcoma AJCC v8

Stage IA includes: T1a, N0, M0. T1a: Uterine corpus leiomyosarcoma with tumor limited to the uterus, measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Digestive System Leiomyosarcoma

A leiomyosarcoma arising from an anatomic site in the digestive system.


Resectable Leiomyosarcoma

Leiomyosarcoma that is amenable to surgical resection.


Advanced Leiomyosarcoma

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


Locally Advanced Soft Tissue Leiomyosarcoma

Soft tissue leiomyosarcoma that has spread to nearby tissues or lymph nodes.


Locally Advanced Leiomyosarcoma

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


Leiomyosarcoma of Deep Soft Tissue

A rare leiomyosarcoma that arises from the deep soft tissue in the retroperitoneum or abdominal cavity.


Grade 4 Skin Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 2 Aortic Injury, CTCAE

Operative intervention not indicated


Refractory Malignant Soft Tissue Neoplasm

Malignant soft tissue neoplasm that is resistant to treatment.


Digestive System Solitary Fibrous Tumor

A solitary fibrous tumor arising from an anatomic site in the digestive system, including the esophagus, gallbladder, liver, pancreas, small bowel mesentery, and the serosal surfaces of the stomach and colon.


Skin tumor of smooth muscle origin

A smooth muscle neoplasm occurring in the skin.


Pilar Leiomyoma

A cutaneous leiomyoma arising from the arrector pili muscle.


Refractory Paraganglioma

A paraganglioma that does not respond to treatment.


Refractory Adrenal Gland Pheochromocytoma

A pheochromocytoma that does not respond to treatment.


Stage IB Uterine Corpus Cancer AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Uterine corpus carcinoma or carcinosarcoma with tumor invading one half or more of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


A member of the class of benzofurans consisting of a 1-benzofuran skeleton and its substituted derivatives thereof.


hydroxybenzoic acid

Any benzoic acid carrying one or more phenolic hydroxy groups on the benzene ring.


3-Hydroxyanthranilic acid

An  aminobenzoic acid that is benzoic acid substituted at C-2 by an amine group and at C-3 by a hydroxy group. It is an intermediate in the metabolism of the amino acid tryptophan.


3-Amino-5-hydroxybenzoic acid

A monohydroxybenzoic acid that is 3-hydroxybenzoic acid carrying an additional amino substitutent at position 4.


3-Amino-4-hydroxybenzoic acid

A monohydroxybenzoic acid that is 4-hydroxybenzoic acid carrying an additional amino substitutent at position 3.


3-Amino-2,4-dihydroxybenzoic acid

An aminobenzoic acid that is benzoic acid substituted by hydroxy groups at positions 2 and 4, and by an amino group at position 3.


4-Methyl-3-hydroxyanthranilic acid

An aminobenzoic acid that is anthranilic acid substituted by a hydroxy group at position 3 and a methyl group at position 4.


monohydroxybenzoic acid

Any hydroxybenzoic acid having a single phenolic hydroxy substituent on the benzene ring.


dihydroxybenzoic acid

Any member of the class of  hydroxybenzoic acids carrying  two phenolic hydroxy groups on the benzene ring and its derivatives.


Beta-Catenin-Activated Inflammatory Hepatocellular Adenoma

Hepatocellular adenoma with features of both beta-catenin-activated hepatocellular adenoma and inflammatory hepatocellular adenoma.


Mahuannin D

A proanthocyanidin isolated form Ephedra sinica.


proanthocyanidin

A flavonoid oligomer obtained by the the condensation of two or more units of hydroxyflavans.


a class of condensed tannins in the sub-class procyanidins contained in the seeds of Areca catechu also called betel nut. The arecatannin-type natural products from Ceylonese cassia bark and Areca seed are examples polyphenols by both current definitions, and fit the distinct definition of a polymeric phenol as well.


Procyanidin B8

A proanthocyanidin that is (+)-catechin and (-)-epicatechin units joined by a bond between positions 4 and 6' respectively in an alpha-configuration. Procyanidin B8 is found in acorn and is present in fruit and leaves of blackberry (Rubus fruticosus), raspberry (Rubus idaeus) and cowberry (Vaccinium vitis idaea). It can be also found in grape seeds and in beer.


A proanthocyanidin consisting of (-)-epigallocatechin and (-)-epicatechin units joined by a (4beta->8)-linkage.


Procyanidin A2

A proanthocyanidin obtained by the condensation of (-)-epicatechin units.


A proanthocyanidin consisting of (+)-catechin and (+)-gallocatechin units joined by a (4alpha->6)-linkage.


A proanthocyanidin consisting of (+)-gallocatechin and (-)-epicatechin units joined by a (4alpha->8)-linkage.


Cinnamtannin A2

A proanthocyanidin isolated from Cinnamomum cassia.


Procyanidin B4

A proanthocyanidin obtained by the condensation of (-)-epicatechin and (+)-catechin units.


Parameritannin A-1

A  proanthocyanidin  found in Cinnamomum cassia and Parameria laevigata.


A proanthocyanidin that is a doubly linked dimer composed of (-)-epicatechin and (-)-epigallocatechin as its flavanol units. Isolated from the wood of Xanthoceras sorbifolium, it exhibits inhibitory activity towards HIV-1 protease.


A proanthocyanidin consisting of (+)-gallocatechin and (+)-catechin units joined by a (4beta->8)-linkage.


A proanthocyanidin consisting of (+)-gallocatechin and (+)-catechin units joined by a (4alpha->6)-linkage.


A proanthocyanidin consisting of two molecules of (-)-epicatechin joined by a (4alpha->8)-linkage.


A proanthocyanidin consisting of (-)-epicatechin and (-)-epigallocatechin units joined by a (4beta->8)-linkage.


A proanthocyanidin consisting of (-)-epicatechin and (+)-gallocatechin units joined by a (4beta->8)-linkage.


A proanthocyanidin consisting of (+)-catechin and (-)-epigallocatechin units joined by a (4alpha->8)-linkage.


Procyanidin

oligomeric compounds, formed from catechin and epicatechin molecules. They yield cyanidin when depolymerized under oxidative conditions.


A proanthocyanidin consisting of (-)-epigallocatechin and (+)-catechin units joined by a (4alpha->6)-linkage.


A biflavonoid consisting of two molecules of afzelechin joined by a (4alpha->8) linkage.


Procyanidin C1

A proanthocyanidin consisting of three (-)-epicatechin units joined by two successive (4beta->8)-linkages.


Procyanidin B5

A proanthocyanidin  consisting of two molecules of (-)-epicatechin joined by a bond between positions 4 and 6' in beta-configuration. It can be found in grape seeds, in Hibiscus cannabinus (kenaf) root and bark, in apple and in cacao.


Procyanidin B2, (+)-

A proanthocyanidin consisting of two molecules of (-)-epicatechin joined by a bond between positions 4 and 8' in a beta-configuration. Procyanidin B2 can be found in Cinchona pubescens (Chinchona, in the rind, bark and cortex), in Cinnamomum verum (Ceylon cinnamon, in the rind, bark and cortex), in Crataegus monogyna (Common hawthorn, in the flower and blossom), in Uncaria guianensis (Cat's claw, in the root), in Vitis vinifera (Common grape vine, in the leaf), in Litchi chinensis (litchi, in the pericarp), in the apple, in Ecdysanthera utilis and in red wine.


A  proanthocyanidin isolated from Cinnamomum cassia.


Arecatannin B1

A proanthocyanidin consisting of two (-)-epicatechin and one (+)-catechin units joined in sequence by (4beta->8)- and (4beta->6)-linkages.


A proanthocyanidin consisting of (+)-gallocatechin and (+)-catechin units joined by a (4alpha->8)-linkage.


Dracorubin

A proanthocyanidin isolated from Dracaena draco.


Procyanidin B1

A proanthocyanidin consisting of (-)-epicatechin and (+)-catechin units joined by a bond between positions 4 and 8' respectively  in a beta-configuration.. Procyanidin B1 can be found in Cinnamomum verum (Ceylon cinnamon, in the rind, bark or cortex), in Uncaria guianensis (cat's claw, in the root), and in Vitis vinifera (common grape vine, in the leaf) or in peach.


Cassiatannin A

A   proanthocyanidin isolated from the bark of Cinnamomum cassia.


Procyanidin B3

A proanthocyanidin consisting of two molecules of (+)-catechin joined by a bond between positions 4 and 8' in alpha-configuration. It can be found in red wine, in barley, in beer, in peach or in Jatropha macrantha, the Huanarpo Macho.


Cinnamtannin B1

A  proanthocyanidin found in Cinnamomum cassia and Cinnamomum zeylanicum.


Procyanidin B6

A proanthocyanidin consisting of two molecules of (+)-catechin joined by a bond between positions 4 and 6' in alpha-configuration. Procyanidin B6 is isolated from leaves and fruit of cowberry Vaccinium vitis-idaea and other plants. It can also be found in grape seeds and in beer.


Cinnamtannin D1

A proanthocyanidin found in Cinnamomum cassia.


Grade 3 Nausea, CTCAE

Inadequate oral caloric or fluid intake; tube feeding, TPN, or hospitalization indicated


Nausea, CTCAE 5.0

A disorder characterized by a queasy sensation and/or the urge to vomit.


Grade 2 Nausea, CTCAE

Oral intake decreased without significant weight loss, dehydration or malnutrition


Grade 1 Nausea, CTCAE

Loss of appetite without alteration in eating habits


Grade 3 Infusion Site Extravasation, CTCAE

Ulceration or necrosis; severe tissue damage; operative intervention indicated


Precocious Puberty, CTCAE 5.0

A disorder characterized by unusually early development of secondary sexual features; the onset of sexual maturation begins usually before age 8 for girls and before age 9 for boys.


Grade 2 Precocious Puberty, CTCAE

Physical signs and biochemical markers of puberty for females <8 years and males <9 years


Grade 1 Precocious Puberty, CTCAE

Physical signs of puberty with no biochemical markers for females <8 years and males <9 years


Refractory Rhabdoid Tumor of the Kidney

A rhabdoid tumor of the kidney that does not respond to treatment.


Recurrent Rhabdoid Tumor of the Kidney

The reemergence of a rhabdoid tumor of the kidney after a period of remission.


Gastrointestinal stromal tumor, benign

A gastrointestinal stromal tumor that is characterized by a maximum diameter equal or less than 5 cm (gastric localization), or equal or less than 2 cm (intestinal localization) and no more than 5 mitotic figures per 50 high power fields.


Benign Gastric Gastrointestinal Stromal Tumor

A gastrointestinal stromal tumor arising from the stomach.  It is characterized by a maximum diameter equal or less than 5 cm and no more than 5 mitotic figures per 50 high power fields.


Stage IA Hepatocellular Carcinoma AJCC v8

Stage IA includes: T1a, N0, M0. T1a: Solitary tumor equal to or less than 2 cm.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Hepatocellular Carcinoma AJCC v8

Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0). T1a: Solitary tumor equal to or less than 2 cm.  T1b: Solitary tumor larger than 2 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Hepatocellular Carcinoma AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Solitary tumor larger than 2 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Grade 3 Atelectasis, CTCAE

Supplemental oxygen indicated; hospitalization or elective operative intervention indicated (e.g., stent, laser)


inorganic potassium salt

A potassium salt that lacks C-H bonds


potassium salt

Any alkali metal salt having potassium(1+) as the cation.


Breast Myoid Hamartoma

A breast hamartoma characterized by the predominance of a smooth muscle component.


Grade 2 Dental and Teeth and Peridontal Pain, CTCAE


Grade 2 Dehydration, CTCAE

IV fluids indicated


Dehydration, CTCAE

A disorder characterized by excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.


Grade 5 Dehydration, CTCAE

Death


Grade 4 Dehydration, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 1 Dehydration, CTCAE

Increased oral fluids indicated; dry mucous membranes; diminished skin turgor


Grade 3 Dehydration, CTCAE

Hospitalization indicated


Grade 5 Abdomen Soft Tissue Necrosis, CTCAE


Colorectal Microvesicular Hyperplastic Polyp

A serrated hyperplastic polyp that arises from the colon and rectum.  It is characterized by the presence of microvacuolated columnar cells that are admixed with small numbers of goblet cells.  There is no evidence of epithelial atypia or dysplasia.


Refractory Visual Pathway Glioma

Visual pathway glioma that is resistant to treatment.


Stage II Gastric Neuroendocrine Tumor AJCC v8

Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor invading the muscularis propria or is greater than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Dysembryoplastic Neuroepithelial-Like Tumor of the Septum Pellucidum

A very rare, low-grade midline brain neoplasm that affects the septum pellucidum. It is characterized by similar histological features to those found in dysembryoplastic neuroepithelial tumor, but does not display multinodularity. It usually manifests with symptoms related to increased intracranial pressure. Epilepsy has been reported in approximately one third of patients. PDGFRA gene mutations have been identified in the majority of patients. Alterations in FGFR1 and NF1 genes have also been reported. BRAF mutations which represent the most common molecular alteration found in cortical dysembryoplastic neuroepithelial tumor, were absent in this rare group of midline tumors.


Parathyroid Gland Lipoadenoma

A parathyroid gland adenoma that contains mature adipocytes.


Grade 2 Gingiva Intra-Operative Injury, CTCAE


Grade 4 Treatment Related Secondary Malignancy, CTCAE

Acute life-threatening secondary malignancy; blast crisis in leukemia


Thyroid Gland Cavernous Hemangioma

A rare cavernous hemangioma that arises from the thyroid gland.


Thyroid Gland Benign Vascular Neoplasm

A rare benign vascular neoplasm that arises from the thyroid gland. This category includes hemangiomas, cavernous hemangiomas, and lymphangiomas.


Thyroid Gland Hemangioma

A rare hemangioma that arises from the thyroid gland.


Thyroid Gland Lymphangioma

An extremely rare lymphangioma that arises from the thyroid gland.


Grade 5 Vasovagal Reaction, CTCAE

Death


Stage IIIB Cervical Cancer AJCC v8

Stage IIIB includes: T3b, Any N, M0. T3b: extending to pelvic wall and/or causing hydronephrosis or nonfunctioning kidney. M0: No distant metastasis. (AJCC 8th Ed.)


Grade 5 Lung Infection, CTCAE

Death


Peritoneal mesothelioma malignant recurrent

The reemergence of malignant peritoneal mesothelioma after a period of remission.


Mesothelioma malignant recurrent

The reemergence of malignant mesothelioma after a period of remission


Grade 5 Edema Cerebral, CTCAE

Death


Grade 3 Atrial Tachycardia or Paroxysmal Atrial Tachycardia, CTCAE


Thoracic Esophagus Adenocarcinoma

An adenocarcinoma that arises from the thoracic esophagus.


Grade 5 Brain Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Fundic gland polyp

The most common gastric polyp in the Western hemisphere.  The lesion consists of a localized hyperplasia of the deep epithelial compartment of the oxyntic mucosa, with variable degrees of cystic dilatation.  Malignant transformation is the exception.  (WHO, 2000)


Grade 1 Pharynx Obstruction and Stenosis, CTCAE


Stage II Rectosigmoid Cancer AJCC v7

Stage II includes: IIA (T3, N0, M0); IIB (T4a, N0, M0); IIC (T4b, N0, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues.  T4a: Tumor penetrates to the surface of the visceral peritoneum.  T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Grade 2 Abducens Nerve Disorder, CTCAE

Moderate symptoms; limiting instrumental ADL


DL-Phenylalanine

An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group.


Clinical Stage 0 Merkel Cell Carcinoma AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: In situ primary tumor. N0: No regional lymph node metastasis detected on clinical and/or radiologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)


Merkel Cell Carcinoma by AJCC v8 Clinical Stage

A term that refers to the clinical staging of Merkel cell carcinoma (primary cutaneous neuroendocrine carcinoma), following the rules of the TNM AJCC v8 classification system.