name: cerebral malformation, seizures, hypertrichosis, and overlapping fingers


name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

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

description: A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: anterior cutaneous nerve entrapment syndrome

description: Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.


Marinesco-Sjogren syndrome

description: Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.


platelet-type bleeding disorder 19

description: Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.


mansonelliasis

description: A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.


anterior pituitary gland disorder

description: A disease that involves the adenohypophysis.


hereditary spastic paraplegia 13

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.


heterotaxy, visceral, 8, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.


canine oral squamous cell carcinoma

description: Oral squamous cell carcinoma that occurs in a dog.


Joubert syndrome 10

description: Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.


name: developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy


name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


name: focal alopecia congenital megalencephaly


canine thyroid adenocarcinoma

description: Adeonocarcinoma of the thyroid gland occurring in a dog.


Blount disease

description: Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.


janus kinase-3 deficiency

description: Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.


name: symptomatic form of fragile X syndrome in female carrier


acquired angioedema type 2

description: Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: familial adenomatous polyposis due to 5q22.2 microdeletion


name: disorder of thiamine metabolism and transport


hereditary hyperbilirubinemia

description: An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.


name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

description: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.


name: hypogonadotropic hypogonadism 6 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.


bird headed-dwarfism, Montreal type

description: Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.


aorta angiosarcoma

description: A malignant vascular neoplasm arising from the aorta.


basaloid follicular hamartoma

description: A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.


name: hydroxyacyl glutathione hydrolase deficiency


name: deafness hypospadias metacarpal and metatarsal syndrome


name: cleft lip palate intellectual disability corneal opacity


kidney benign neoplasm

description: A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.


name: Hodgkin's lymphoma, lymphocytic depletion

description: A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)


name: patterned dystrophy of the retinal pigment epithelium


name: intellectual disability, autosomal recessive 65


angiomatous meningioma

description: A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.


premature ovarian failure 7

description: Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.


paratuberculosis

description: A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis.


cutaneous mycosis

description: A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.


name: neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


name: childhood acute megakaryoblastic leukemia

description: An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.


pediatric liposarcoma

description: A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.


ulna metaphyseal dysplasia syndrome

description: 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

description: 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

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


name: facioscapulohumeral muscular dystrophy 2

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


name: autosomal recessive spastic paraplegia type 68


Leber congenital amaurosis 16

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


genito-palato-cardiac syndrome

description: 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.


name: isolated growth hormone deficiency, type 5


Treacher Collins syndrome 2

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


keratopathy

description: Any disorder of the cornea.


name: autosomal recessive palmoplantar keratoderma and congenital alopecia

description: 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.


marasmus

description: The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.


name: X-linked intellectual disability, Sutherland-Haan type


hereditary spastic paraplegia 35

description: 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.


name: syndromic X-linked intellectual disability Nascimento type

description: 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

description: 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


name: late infantile neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.


Cole-Carpenter syndrome 1

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


name: chromosome 15q13.3 microdeletion syndrome

description: 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

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


name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations


immune system cancer

description: A malignant neoplasm involving the immune system


name: X-linked intellectual disability, Schutz type


thyroid dyshormonogenesis 3

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.


poliovirus infection

description: An disease or disorder caused by infection with Enterovirus C.


brachyolmia, Maroteaux type

description: 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.


congenital myasthenic syndrome 3C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.


name: intellectual disability, autosomal dominant 52


name: intellectual disability, autosomal recessive 23


corticobasal degeneration disorder

description: 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

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


name: generalized galactose epimerase deficiency


toxoplasmosis, non-human animal

description: Acquired infection of non-human animals by organisms of the genus toxoplasma.


congenital myasthenic syndrome 2A

description: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


pyruvate dehydrogenase deficiency

description: Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.


benign shuddering attacks

description: Uncommon, involuntary movements of the head and upper extremities resembling shivering and straining seen in infants and children during normal activities and without impaired consciousness or epileptiform electroencephalogram (EEG).  Resolution or improvement by age 2 or 3 is often noted.


Bartholin gland neoplasm

description: 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

description: 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

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


torsion dystonia 2

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


name: hypogonadotropic hypogonadism 23 with or without anosmia

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


delusional disorder

description: 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

description: A myxoid chondrosarcoma occurring in adults.


name: autosomal recessive cerebellar ataxia-blindness-deafness syndrome


X-linked mandibulofacial dysostosis

description: 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.


Becker muscular dystrophy

description: Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.


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


name: lethal congenital contracture syndrome 7

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.


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

description: 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.)


name: hamartoma, Precalcaneal congenital fibrolipomatous


name: refractory anemia with excess blasts in transformation

description: Refractory anemia with excess blasts in transformation (RAEB-T) is characterized 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.


D-2-hydroxyglutaric aciduria 1

description: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.


polyclonal hypergammaglobulinemia

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


Queensland tick typhus

description: 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.


hemorrhagic cystitis

description: Inflammation of the bladder resulting in bloody urine.


Bacteroidaceae infectious disease

description: Infections with bacteria of the family BACTEROIDACEAE.


name: malignant mixed epithelial and mesenchymal tumor of cervix uteri


renal tubular transport disease

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


acquired factor VII deficiency

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


name: early-onset immune dysregulation due to DOCK11 complete deficiency


penile cancer

description: A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.


acquired coagulation factor deficiency

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


tinea barbae

description: A dermatophytosis that involves the beard.


name: EGF-related primary hypomagnesemia with intellectual disability


name: autosomal recessive nonsyndromic hearing loss 27

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


swine vesicular disease

description: An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B.


name: COG8-congenital disorder of glycosylation

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


Atkin-Flaitz syndrome

description: Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.


lesion of sciatic nerve

description: A peripheral nerve lesion that involves the sciatic nerve.


name: intellectual disability, autosomal recessive 13

description: 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

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


name: corpus callosum agenesis-double urinary collecting system syndrome


syndactyly, Swainson's hawk

description: Syndactyly that occurs in Swainson's hawk.


exhibitionism

description: 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

description: 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

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


familial hypoaldosteronism

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


name: hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature


name: vertebral hypoplasia with lumbar kyphosis


salpingo-oophoritis

description: Inflammation of the fallopian tubes and ovaries.


ventricular septal defect 3

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


severe hemophilia A

description: 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

description: 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.


name: acute disseminated encephalomyelitis without anti-MOG antibodies


name: CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy

description: Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.


hereditary nephritis

description: 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.


split hand-foot malformation 6

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


maxillary sinusitis

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


xeroderma pigmentosum group A

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


description: 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.


myoclonic epilepsy of Lafora 2

description: Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene.


name: Y chromosome infertility due to DAZ1 deletion


name: neonatal severe primary hyperparathyroidism

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


name: progeroid and marfanoid aspect-lipodystrophy syndrome


5q35 microduplication syndrome

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


aortic aneurysm, familial thoracic 6

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


name: heart defect - tongue hamartoma - polysyndactyly syndrome


name: neurodevelopmental disorder with dysmorphic facies and variable seizures


aleukemic leukemia

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


Fanconi anemia complementation group Q

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


retinitis pigmentosa 18

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


name: microcephaly 23, primary, autosomal recessive


Niemann-Pick disease, type C1

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


inherited thyroid metabolism disease

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


Adams-Oliver syndrome 1

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


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


Jawad syndrome

description: Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.


organophosphate poisoning

description: A poisoning that is caused by exposure to organophosphate.


lacrimal duct cancer

description: A primary or metastatic malignant neoplasm affecting the lacrimal duct.


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


name: blistering, acantholytic, of oral and laryngeal mucosa


EEM syndrome

description: EEM syndrome is characterized 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).


trochlear nerve neoplasm

description: A neoplasm involving a trochlear nerve.


hereditary spastic paraplegia 38

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


lichen planopilaris

description: 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

description: A disease involving the nasal cavity.


distal trisomy 19q

description: 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.


name: Epstein-Barr virus-associated mesenchymal tumor


name: chronic inflammation of lacrimal passage


name: partial duplication of the long arm of chromosome 17


mitochondrial DNA depletion syndrome

description: 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

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


name: Pelizaeus-Merzbacher disease, classic form

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


polyp of frontal sinus

description: A polyp that involves the frontal sinus.


pontocerebellar hypoplasia type 1A

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


name: cerebral calcification cerebellar hypoplasia


name: immunodeficiency 63 with lymphoproliferation and autoimmunity


van Maldergem syndrome

description: Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.


name: hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

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


disorder of organic acid metabolism

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


spinal muscular atrophy, type II

description: 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.


name: developmental and epileptic encephalopathy, 12

description: An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.


trichodental syndrome

description: Trichodental syndrome is characterized 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

description: 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

description: Infection of the spleen with species of mycobacterium.


IgG4-related disease

description: 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

description: 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

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


McKusick-Kaufman syndrome

description: McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.


anemia of prematurity

description: A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.


Koolen-de Vries syndrome

description: A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.


IRIDA syndrome

description: 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

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


name: microcephaly, short stature, and impaired glucose metabolism


erythrocytosis, familial, 4

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


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome


polydactyly, rock pigeon

description: Polydactyly that occurs in rock pigeon.


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

description: This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. 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

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


name: glycogen storage disease due to GLUT2 deficiency

description: 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

description: OSLAM syndrome is characterized 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 anemia.


name: autoimmune lymphoproliferative syndrome type 2B

description: 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.


name: spinocerebellar ataxia, autosomal recessive 28


metabolic epilepsy

description: 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.


name: partial deletion of the long arm of chromosome 3


adenomatoid odontogenic tumor

description: 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.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1


name: nystagmus 2, congenital, autosomal dominant


epilepsy, chicken

description: Epilepsy that occurs in chicken.


name: peroxisome biogenesis disorder due to PEX12 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.


oocyte maturation defect 2

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


infantile glycine encephalopathy

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


schwannomatosis, cattle

description: Schwannomatosis that occurs in cattle.


congenital rubella syndrome

description: 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

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


name: anterior segment developmental abnormality with extraocular manifestations


name: MED12-related intellectual disability syndrome

description: 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

description: 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.


name: early-onset cerebellar ataxia with retained tendon reflexes

description: 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

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


name: late-onset junctional epidermolysis bullosa

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


bladder benign neoplasm

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


triploidy, chicken

description: Triploidy that occurs in chicken.


name: oculocerebrofacial syndrome, Kaufman type


Joubert syndrome and related disorders

description: 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

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


name: neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


name: negative rheumatoid factor polyarthritis


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


name: congenital disorder of glycosylation with defective fucosylation


mosaic trisomy 17

description: 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

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


name: autosomal dominant pseudohypoaldosteronism type 1

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


spinocerebellar ataxia type 5

description: 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

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


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

description: 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).


chronic eosinophilic leukemia

description: A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.  Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia.  In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred.  (WHO, 2001)


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


main bronchus cancer

description: A malignant neoplasm involving the main bronchus.


African iron overload

description: 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.


name: testicular non-seminomatous germ cell tumor

description: 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.


name: craniosynostosis cleft lip palate arthrogryposis


name: childhood testicular mixed germ cell cancer

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


eosinophilic meningitis

description: Meningitis in which eosinophils predominate in the cerebrospinal fluid.


description: 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

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


Gamstorp-Wohlfart syndrome

description: A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

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


name: autosomal recessive combined immunodeficiency due to partial IL6ST deficiency


name: spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type


mosaic variegated aneuploidy syndrome 1

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


name: developmental delay with dysmorphic facies and dental anomalies


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

description: 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.


name: mitochondrial myopathy with reversible cytochrome C oxidase deficiency


name: postlingual non-syndromic genetic hearing loss

description: 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.


A lysophosphatidylcholine 20:3 in which the acyl group at position 1 is (5Z,8Z,11Z)-icosatrienoyl (meadoyl) and the hydroxy group at position 2 is unsubstituted.


Circumscribed Morphea

description: 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

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


Deep Circumscribed Morphea

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


Asn-Met-Trp-Asn

A tetrapeptide composed of L-asparagine, L-methionine, L-tryptophan and L-asparagine joined in sequence by peptide linkages.


PTEN Negative

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

description: An indication that PTEN expression or activity has not been detected in a sample.


polysaccharide sulfate

Any carbohydrate sulfate that is a polysaccharide carrying at least one O-sulfo substituent.


PubChem CID 91849816

A polysaccharide with molecular formula C129H211N9O97S consisting of NeuAc(a2-3)Gal(b1-4)GlcNAc(b1-2)[Gal3S(b1-4)GlcNAc(b1-4)]Man(a1-3)[NeuAc(a2-3)Gal(b1-4)GlcNAc(b1-2)[NeuAc(a2-3)Gal(b1-4)GlcNAc(b1-6)]Man(a1-6)]Man(b1-4)GlcNAc(b1-4)[Fuc(a1-6)]GlcNAc.


A secondary fatty alcohol that is henicosane substituted by a hydroxy group at position 10.


name: Merkel cell carcinoma of right eyelid, including canthus

description: Evidence of Merkel cell carcinoma of right eyelid including the canthus.


name: Unresectable Skin Squamous Cell Carcinoma

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


Unresectable Skin Carcinoma

description: Skin carcinoma that is not amenable to surgical resection.


Unresectable Skin Basal Cell Carcinoma

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


name: Unresectable Cutaneous Squamous Cell Carcinoma of the Head and Neck

description: Cutaneous squamous cell carcinoma of the head and neck that is not amenable to surgical resection.


Incongruent Visual Field Defect

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


Central Visual Field Defect

description: Reduced or abnormal sight in the central visual field.


Peripheral visual field defect

description: Reduced or abnormal sight in the peripheral visual field.


Homonymous Visual Field Defect

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


Heteronymous Visual Field Defect

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


Congruent Visual Field Defect

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


mercuric iodide

A mercury coordination entity composed of mercury and iodine with formula HgI2.


Microbial EC50 Subject Result

description: A measurement of titer of a microbial organism that has been exposed to the concentration of a specific drug expected to produce 50 percent inhibition of the population growth or replication of a microbial organism.


name: Breast Cancer pN0(mol+) TNM Finding v6 and v7

description: Breast cancer with positive molecular findings by RT-PCR, but without histological or immunohistochemical evidence of regional lymph node involvement.  (from AJCC 6th and 7th Ed.)


name: Conduction Abnormality and Atrioventricular Heart Block, CTCAE


Grade 1 Mobitz Type I, CTCAE

description: Asymptomatic, intervention not indicated


Grade 3 Sick Sinus Syndrome, CTCAE

description: Symptomatic, intervention indicated


Grade 3 Mobitz Type I, CTCAE

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


name: Grade 4 Conduction Abnormality NOS, CTCAE


Grade 5 Asystole, CTCAE

description: Death


name: Grade 1 Wolff-Parkinson-White Syndrome, CTCAE


name: Grade 2 Mobitz (Type) II Atrioventricular Block, CTCAE

description: Symptomatic; medical intervention indicated


Grade 1 Asystole, CTCAE

description: Periods of asystole; non-urgent medical management indicated


name: Grade 1 Mobitz (Type) II Atrioventricular Block, CTCAE


name: Grade 5 Wolff-Parkinson-White Syndrome, CTCAE


name: Grade 2 Conduction Abnormality NOS, CTCAE


name: Grade 3 Wolff-Parkinson-White Syndrome, CTCAE


Grade 5 Sick Sinus Syndrome, CTCAE

description: Death


name: Grade 5 Conduction Abnormality NOS, CTCAE


name: Grade 3 Conduction Abnormality NOS, CTCAE


name: Grade 4 Mobitz (Type) II Atrioventricular Block, CTCAE

description: Life-threatening consequences; urgent intervention indicated


name: Grade 1 Conduction Abnormality NOS, CTCAE


Mobitz Type I, CTCAE

description: 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

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


name: Grade 2 Wolff-Parkinson-White Syndrome, CTCAE


Grade 2 Sick Sinus Syndrome, CTCAE

description: Symptomatic, intervention not indicated; change in medication initiated


name: Mobitz (Type) II Atrioventricular Block, CTCAE

description: 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.


name: Grade 4 Wolff-Parkinson-White Syndrome, CTCAE


Grade 5 Mobitz Type I, CTCAE

description: Death


name: Grade 3 Mobitz (Type) II Atrioventricular Block, CTCAE

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


name: Grade 5 Mobitz (Type) II Atrioventricular Block, CTCAE

description: Death


A 1-phosphatidyl-1D-myo-inositol in which the 1- and 2-acyl groups are octadecanoyl and icosatetraenoyl respectively.


A 1-octadecanoyl-2-acyl-sn-glycero-3-phospho-1D-myo-inositol in which the 2-acyl group is specified as (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoyl (arachidonoyl).


alpha-L-fructopyranose

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


achromobactin free acid

A tetracarboxylic acid obtained by protonation of the four carboxylate groups of achromobactin. A siderophore biosynthesized by prokaryotes.


chloroaniline

Any  substituted aniline carrying at least one chloro group.


A monochloroaniline that is p-toluidine in which one of the hydrogens that is meta to the amino group is replaced by a chlorine.


A monochlorobenzene that is the 3-trifluoromethyl derivative of 4-chloroaniline.


A dichloroaniline carrying chloro groups at positions 2 and 5.


name: Small Intestinal Small Cell Neuroendocrine Carcinoma

description: 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.


name: Hemoglobin Beta Homozygous Insufficient Genotype

description: A genetic finding indicating that both copies of chromosome 16 each have a copy of the hemoglobin beta gene (HBB) with mutations that lead to hemoglobin subunit beta insufficiency (B+). This genotype is associated with beta thalassemia intermedia.


Actinomycetoma

description: A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by Actinomycetes bacteria.


name: Papillary, Follicular, Hurthle Cell, Poorly Differentiated, and Anaplastic Thyroid Carcinoma pT4b TNM Finding v8

description: Gross extrathyroidal extension invading prevertebral fascia or encasing the carotid artery or mediastinal vessels from a tumor of any size. (from AJCC 8th Ed.)


A cycloheptatriene with unsaturation at positions 1, 3 and 5.


A alpha-D-Glcp-(1->4)-[alpha-D-Glcp-(1->6)]-D-Glcp which has beta- configuration at the anomeric carbon.


A glucotriose that is D-glucopyranose in which the hydroxy groups at positions 4 and 6 have each been converted into the corresponding alpha-D-glucopyranosyl derivative.


A 2-penten-1-ol in which the double bond has (E)-configuration. It is a volatile compound found in cooked mussels, olive oil, fermented cucumber brine and cashew apple juice.


name: Grade 3 Lower Extremity Artery Injury, CTCAE


Increased Bone Density

description: A finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and Paget disease.


N-acetyl-L-methionyl-L-glutamine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-glutamine.


N-acylammonia

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


N-acetyl-L-methionyl-L-threonine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-threonine.


acetylagmatine

A member of the class of guanidines that is agmatine acetylated at the N4-position.


cetoniacytone A

A member of the class of cyclohexenones that is (1R,5S,6R)-4-amino-5-hydroxy-1-(hydroxymethyl)-7-oxabicyclo[4.1.0]hept-3-en-2-one in which one of the amino hydrogens is replaced by an acetyl group.


A high-mannose oligosaccharide that is alpha-D-Manp-(1->6)-[alpha-D-Manp-(1->2)-alpha-D-Manp-(1->2)-alpha-D-Manp-(1->3)]-beta-D-Manp-(1->4)-beta-D-GlcpNAc-(1->4)-2-D-GlcpNAc inomeric hydroxy group of the terminal N-acetamidoglucose residue has alpha configuration.


A member of the class of quinazolines that is quinazoline which is substituted at positions 2 and 4 by phenyl and (3-acetamidophenyl)nitrilo groups, respectively.


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.


N-acetyl-L-methionyl-L-leucine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-leucine.


N-acetyl-L-methionyl-L-alanine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-alanine.


LACCACID ACID A

A tetrahydroxyanthraquinone that is that is 3,5,6,8-tetrahydroxy-9,10-anthraquinone substituted by two carboxy groups at positions 1 and 2 as well as a 5-(2-acetamidoethyl)-2-hydroxyphenyl group at position 7. The major component of LAC dye together with laccaic acids B, C and D


N-acetyl-L-methionyl-L-serine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-serine.


N-acetyl-L-methionyl-L-tyrosine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-tyrosine.


isoretuline

A monoterpenoid indole alkaloid with formula C21H26N2O2.


A member of the class of indoles that is  acetamide substituted by a 1H-indol-3-yl group at position 2. It is an intermediate in the production of plant hormone indole acetic acid (IAA).


A tetrol that is N-(1-iminohexan-2-yl)acetamide in which the four hydroxy substituents are located at positions 3, 4, 5 and 6.


A high-mannose oligosaccharide that is beta-D-mannopyranose in which the hydrogens of hydroxy groups are replaced by an alpha-D-mannopyranosyl-group at position 6, an alpha-D-mannopyranosyl-(1right2)-alpha-D-mannopyranosyl-(1right2)-alpha-D-mannopyranosyl group at position 3, and a chitobiose group at position 1.


A member of the class of quinazolines that is quinazoline which is substituted at positions 2 and 4 by 2-fluorophenyl and (3-acetamidophenyl)nitrilo groups, respectively.


acetylblasticidin S

A member of the class of blasticidins that is blasticidin S in which the side-chain amino group is acetylated.


nikkomycin

A class of nucleoside-peptide antibiotics which inhibit fungal chitin biosynthesis by inhibiting chitin synthase. Generally consist of a heterocyclic moiety (usually a nucleobase), an amino hexuronic acid and an amino acid containing a pyridine ring.


A 5'-deoxyribonucleoside consisting of inosine where the 5'-hydroxy group is substituted by a methylsulfanyl group.


A 5'-deoxyribonucleoside compound having adenosine as the nucleobase.


A 5'-deoxyribonucleoside in which hypoxanthine is attached to 5-deoxyribofuranose via a beta-N(9)-glycosidic bond.


NIKKOMYCIN

A uridine-based nucleoside-peptide antibiotic which inhibits fungal chitin biosynthesis by inhibiting chitin synthase.


An N-acyl-15-methylhexadecasphing-4-enine-1-phosphocholine in which the acyl group has 21 carbons and 2 double bonds.


M-factor

A nine-membered oligopeptide that consists of tyrosyl, threonyl, prolyl, lysyl, valyl, prolyl, tyrosyl, methionyl and methyl S-farnesylcysteinate residues joined in sequence. A peptide pheromone released by Schizosaccharomyces pombe cells of the cellular mating type Minus.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 25 carbons and 0 double bonds.


Any ceramide having 15-methylhexadecasphinganine as the sphingoid component.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 21 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 22 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 26 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 23 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 16 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 19 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 15 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 24 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 14 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 18 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 20 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 17 carbons and 0 double bonds.


Fractional Flow Reserve Ratio of Vessel

description: The pressure distal to the stenosis divided by the pressure proximal to the stenosis. This ratio is equal to maximum blood flow in the vessel with stenosis divided by the maximum hypothetical blood flow without stenosis.


Late Pregnancy Bleeding

description: An abnormal bleeding through the vagina that occurs during the last trimester of pregnancy.


A flavanol that is 3,4-dihydro-2H-chromene which is substituted at positions 3, 4, 5, and 7 by hydroxy groups, and at position 2 by a 3,4,5-trihydroxyphenyl group.


A flavan-3,3',4,4',5,5',7-heptol that has (2R,3S,4S) configuration.


An amino alcohol that is 2-amino-propane-1-ol in which one of the hydroxyl hydrogens is replaced by a hexedecyl group (the S-enantiomer).


amabiline

A carboxylic ester obtained by formal condensation of the carboxy group of (2S,3S)-2,3-dihydroxy-2-isopropylbutanoic acid with the hydroxy group of (7aS)-2,3,5,7a-tetrahydropyrrolizin-7-ylmethanol.


A pyrrolizidine alkaloid that is pyrrolizidine substituted by a formyl group at position 1.


(-)-(S)-chlorizidine A

An alkaloid natural product containing chlorinated pyrroloisoindolone and pyrrolizine rings found in a marine Streptomyces sp..


name: Acute Liver Injury without Fulminant Failure Related to COVID-19

description: Acute liver injury associated with abnormal liver chemistries (greater than two times the upper limit of normal) in the absence of signs of hepatic failure (e.g., no coagulopathy or encephalopathy) in a patient with probable or confirmed acute COVID-19. This is usually mild, transient, and does not require intervention.


description: Evidence of inhalant dependence with intoxication delirium.


PTPRC Positive

description: An indication that PTPRC expression has been detected in a sample.


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


An O-hexadecadienoylcarnitine having (7Z,10Z)-hexadecadienoyl as the acyl substituent.


O-hexadecadienoylcarnitine

An O-acylcarnitine having a hexadecadienoyl group as acyl substituent in which the positions of the two double bonds are unspecified.


Pathologic Complete Response

description: The disappearance of all signs of cancer, supported by pathological examination.


A trimethoxyflavone that is myricetin in which the hydroxy groups at position 7, 3' and 5' have been replaced by methoxy groups.


name: Grade 3 Pelvic Floor Muscle Weakness, CTCAE

description: Severe symptoms; limiting self care ADL


A hydroxy fatty-acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of 2-hydroxyicosanoic acid


A docosanoid that consists of (8E,10Z,13Z,16Z,19Z)-docosapentaenoic acid carrying an oxo substituent at position 7. An intermediate of specialised proresolving mediators.


(S,S)-formoterol

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.


formoterol

A racemate consisting of equal amounts of arformoterol (the active enantiomer) and (S,S)-formoterol (the inactive enantiomer). Its fumaric acid salt is used as a direct-acting sympathomimetic and bronchodilator for the treatment of chronic obstructive pulmonary disease (any progressive respiratory disease that makes it harder to breathe over time, such as chronic bronchitis and emphysema).


arformoterol

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 R configuration. The active enantiomer of formoterol, it is administered by inhalation (generally as the tartrate salt) as a direct-acting sympathomimetic and  bronchodilator for the treatment of chronic obstructive pulmonary disease (any progressive respiratory disease that makes it harder to breathe over time, such as chronic bronchitis and emphysema).


Moderate Cardiac Valve Stenosis

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


Grade 5 Renal Hemorrhage, CTCAE

description: Death


A glycosylmannose consisting of two D-mannopyranose residues joined by a (1->2) glycosidic bond.


A C76 mycolic acid having a C52 meromycolic chain with two cis cyclopropyl functions and a saturated C24 alpha-branch. It is produced by Mycobacterium tuberculosis H37Ra.


name: Grade 5 Toxic Epidermal Necrolysis, CTCAE

description: Death


Hemorrhage of rectum and anus

description: Bleeding originating from the rectal wall and anus.


A member of the class of pyrrolidine-2-ones that is pyrrolidine-2-one in which the hydrogen attached to the nitrogen and both of the hydrogens at position 5 are replaced by methyl groups.


N-cyclohexylpyrrolidine

An N-alkylpyrrolidine that is pyrrolidine in which the hydrogen attached to the nitrogen has been replaced by a cyclohexyl group.


HYGRINE

A methyl ketone that is acetone in which one of the hydrogens is replaced by a 1-methylpyrrolidin-2-yl group.


tetflupyrolimet

An N-alkylpyrrolidine that is pyrrolidine substituted by methyl, oxo, (2-fluorophenyl)aminocarbonyl, and 3-(trifluoromethyl)phenyl groups at positions 1, 2, 3, and 4, respectively. It is a herbicide developed by FMC Corporation for the control of grass weeds in rice, as well as key broadleaf weeds and sedges.


An optically active form of nemonapride having (2S,3S)-configuration.


nemonapride

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.


A member of the class of indazoles that is 1H-indazole substituted by a 6-(propan-2-yloxy)pyridin-3-yl group at position 3 and by a {[(3S)-3-(methylsulfanyl)-1-(2-{4-[4-(1-methyl-1H-1,2,4-triazol-3-yl)phenyl]-3,6-dihydropyridin-1(2H)-yl}-2-oxoethyl)pyrrolidin-3-yl]carbonyl}amino group at position 5. It is a potent and selective inhibitor of ERK1 and ERK2 in vitro (IC50 values of 23.0 nM and 8.8 nM, respectively). The drug is being developed by Merck Sharp & Dohme and is currently in clinical development for the treatment of advanced/metastatic solid tumors.


(S)-nicotine 1-N-oxide

A member of the class of pyridine N-oxides obtained by oxidation of the pyridine nitrogen of (S)-nicotine.


riviciclib

A synthetic dihydroxyflavone that is 5,7-dihydroxyflavone which is substituted by a (2R,3S)-2-(hydroxymethyl)-1-methylpyrrolidin-3-yl group at position 8 and by a chlorine at the 2' position. A cyclin-dependent kinase inhibitor that exhibits anti-cancer properties.


(-)-hygrine

A 1-(1-methylpyrrolidin-2-yl)acetone that has S configuration.


A member of the class of aminoquinolines that is is quinoline substituted by 5-methylfuran-2-yl, (1-methylpiperidin-4-yl)amino, methoxy, and 3-(pyrrolidin-1-yl)propoxy groups at positions 2, 4, 6 and 7, respectively. It is a dual G9a/DNA methyltransferases inhibitor with antitumor activity. It inhibits G9a, DNMT1, DNMT3A, DNMT3B and GLP (IC50 = 8 nM, 382 nM, 85 nM, 1200 nM and 2 nM, respectively).


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


hygrine

A 1-(1-methylpyrrolidin-2-yl)acetone that has R configuration. It is a pyrrolidine alkaloid found in the coca plant, Erythroxylum coca.


An N-acylpyrrolidine resulting from the formal condensation of the pyrrolidine nitrogen of (2R,3S)-2-[(2S)-(2-carboxy)isobutyl-3-(methylsulfonylamino)pyrrolidine with the carboxylic acid group of 2-(pyrrolidin-1-ylmethyl)-1,3-oxazole-4-carboxylic acid.


cotinine N-oxide

An N-alkylpyrrolidine that is nicotine in which the methylene hydrogens at position 2 on the pyrrolidine ring have been replaced by an oxo group and the pyridine nitrogen converted into the corresponding N-oxide. A minor metabolite of nicotine.


An N-alkylpyrrolidine that is cotinine substituted at position C-3 by a hydroxy group (the 3R,5S-diastereomer).


A chromanol that is chroman-6-ol which is substituted at positions 2, 3, and 4 by p-(2-pyrrolidin-1-ylethoxy)phenyl, p-hydroxyphenyl, and methyl groups, respectively (the 2R,3R,4S diastereoisomer).


description: Hemophagocytic lymphohistiocytosis that is resistant to treatment.


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


Grade 2 Edema Limbs, CTCAE

description: >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


name: Follicular Lymphoma Grade IIIa, Lymph Nodes of Head, Face, and Neck

description: Evidence of follicular lymphoma grade IIIa in the lymph nodes of head in the face in the and neck.


dialuric acid

A member of the class of barbiturates that is barbituric acid in which a hydrogen attached to a ring carbon is replaced by a hydroxy group.


Grade 3 Pancreatic Fistula, CTCAE

description: Invasive intervention indicated


An alpha-D-galactoside that is the 2-aminoethyl glycoside of a disaccharide consisting of alpha-D-glucosyl and alpha-D-galactosyl residues linked (1->4).


FOXL2 Gene Mutation Negative

description: An indication that FOXL2 gene mutations have not been detected in a sample.


name: Lip and Oral Cavity Cancer cN3a TNM Finding v8

description: Lip and oral cavity cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)


Desmoplastic Neurotropic Melanoma

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


Ann Arbor Stage I AIDS-Related Lymphoma

description: 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).


description: Evidence of pre-existing hypertensive chronic kidney disease complicating childbirth.


name: Magnesium ammonium phosphate urolithiasis

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


A member of the class of  hydroxyfluorenes that is 9H-fluorene substituted by hydroxy groups at positions 3 and 4.


Grade 5 Bronchial Infection, CTCAE

description: Death


name: Stage IIIB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

description: 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.)


name: 5-hydroxy-1,2-dimethyl-4,6-dinitro-3-indolecarboxylic acid ethyl ester


name: Grade 3 Cranial Nerve XI Neuropathy, CTCAE


ISAVUCONAZOLE

A 1,3-thiazole that is butan-2-ol which is substituted at positions 1, 2, and 3 by 1,2,4-triazol-1-yl, 2,5-difluorophenyl, and 4-(p-cyanophenyl)-1,3-thiazol-2-yl groups, respectively. It is an antifungal drug used for the treatment of invasive aspergillosis and invasive mucormycosis.


An iminium betaine obtained by deprotonation of the phosphate group of any N-retinylidene-N-retinylphosphatidylethanolamine.


name: Grade 3 Urethra Intra-Operative Injury, CTCAE


pyrimidine 5'-deoxyribonucleotide

A 5'-deoxyribonucleotide compound having a pyrimidine-derived nucleobase.


Stage IIIB Colon Cancer AJCC v8

description: 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

description: 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

description: 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

description: 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.)


(R)-famoxadone

A 5-methyl-5-(4-phenoxyphenyl)-3-(phenylamino)-1,3-oxazolidine-2,4-dione that is the (inactive) (R)-enantiomer of famoxadone.


FAMOXADONE

A  5-methyl-5-(4-phenoxyphenyl)-3-(phenylamino)-1,3-oxazolidine-2,4-dione that is the (active) (S)-enantiomer of famoxadone. It prevents spore germination and mycelial growth of sensitive fungi and is used in agriculture for the control of various fungal diseases.


S-formylglutathione

A S-acylglutathione in which the acyl group specified is formyl.


1-phospho-alpha-D-glucuronic acid

The 1-O-phospho derivative of alpha-D-glucuronic acid.


heparosan-N-sulfate D-glucuronic acid

A heparan sulfate composed of a backbone of repeating beta-D-glucuronosyl-(1->4)-N-sulfonyl-alpha-D-glucosamine units joined by (1->4)-linkages.


L-arabinuronic acid

An arabinuronic acid having L-configuration.


An ester of 4-deoxy-alpha-L-threo-hex-4-enopyranuronic acide produced by Streptomyces sp..


5-dehydro-4-deoxy-D-glucuronic acid

A hexuronic acid that results from hydrolytic ring cleavage of the hemiacetal group of 4-deoxy-alpha-L-threo-hex-4-enopyranuronic acid with subsequent tautomerisation of the resulting enol to the corresponding ketone.


L-iduronic acid

Any iduronic acid having L-configuration.


A glycosylrhamnose that is 4-deoxy-beta-L-threo-hex-4-enopyranuronose joined by a (1->2)-glycosidic link to alpha-L-rhamnopyranose.


beta-D-galacturonic acid

A D-galactopyranuronic acid with a beta-configuration at the anomeric center.


A uronic acid that is beta-D-glucuronic acid in which the hydroxy group at position 4 and the hydrogen at position 5 have been eliminated with the introduction of a double bond between positions 4 and 5.


An oligosaccharide sulfate that is 2-acetamido-2-deoxy-4-O-sulfo-beta-D-galactopyranose in which the hydroxy group at position 3 has been converted to the corresponding alpha-L-idopyranuronoside.


4,5-dehydro-D-glucuronic acid

A member of the class of glucoronic acids that is beta-D-glucuronic acid which has been dehydrogenated to introduce a double bond between positions 4 and 5.


5-deoxy-D-glucuronic acid

The 5-deoxygenated analogue of D-glucuronic acid.


D-galacturonic acid

The D-enantiomer of galacturonic acid. It is the main component of pectin.


keto-D-fructuronic acid

The straight-chain keto form of D-fructuronic acid.


alpha-L-glucopyranuronic acid

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


idopyranuronic acid

The pyranose form of iduronic acid.


D-fructofuranuronic acid

The furanose form of D-fructuronic acid.


L-glucopyranuronic acid

The pyranose form of L-glucuronic acid.


An oligosaccharide sulfate that is 2-acetamido-2-deoxy-6-O-sulfo-beta-D-galactopyranose in which the hydroxy group at position 3 has been converted into the corresponding beta-D-glucopyranuronoside.


An oligosaccharide sulfate that is 2-acetamido-2-deoxy-4-O-sulfo-beta-D-galactopyranose in which the hydroxy group at position 3 has been converted into the corresponding beta-D-glucopyranuronoside.


L-idopyranuronic acid

The L-stereoisomer of idopyranuronic acid.


alpha-D-glucuronic acid

A D-glucopyranuronic acid in which the anomeric centre has alpha-configuration.


GLUCURONATE

A D-glucopyranuronic acid in which the anomeric centre has beta-configuration.


aldehydo-L-iduronic acid

The open-chain aldehydo-form of L-iduronic acid.


alpha-L-iduronic acid

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


D-arabinuronic acid

An arabinuronic acid having D-configuration.


heparosan N-sulfate L-iduronic acid

A heparan sulfate composed of a backbone of repeating alpha-L-iduronosyl-(1->4)-N-sulfonyl-alpha-D-glucosamine units joined by (1->4)-linkages.


A D-galacturonic acid having a 4-deoxy-alpha-L-threo-hex-4-enopyranosyluronic acid moiety attached at the 4-position.


iduronic acid

A member of the class of  iduronic acids that is the major uronic acid component of the dermatan sulfate and heparin.


A disaccharide consisting of beta-D-glucuronic acid linked (1->3) to a beta-D-galactose residue.


A hexuronic acid that is 3,4-dihydro-2H-pyran-6-carboxylic acid substituted by a hydroxy group at each of the positions 2, 3, and 4 (the 2S,3R,4S-diastereoisomer).


alpha-D-galacturonic acid

The alpha-anomer of D-galacturonic acid.


A tetrasaccharide that is beta-D-glucopyranuroic acid, attached in sequence to beta-D-galactopyranosyl, beta-D-galactopyranosyl, and beta-D-xylopyranose by (1->3), (1->3), and (1->4) glycosidic linkages, respectively.


D-galactopyranuronic acid

The pyranose form of D-galacturonic acid


L-glucuronic acid

The L-enantiomer of glucuronic acid.


dTDP-D-galacturonic acid

A dTDP-sugar where the sugar component is D-galacturonic acid.


A digalacturonic acid in which an alpha-D-galactopyranuronic acid unit is joined to a D-galactopyranuronic acid unit via an alpha-(1->4)-linkage.


alpha-D-fructuronic acid

The alpha anomer of D-fructofuranuronic acid.


beta-D-fructuronic acid

The beta anomer of D-fructofuranuronic acid.


D-glucopyranuronic acid

A D-glucuronic acid in cyclic pyranose form.


D-glucuronic acid

The D-enantiomer of glucuronic acid.


A alpha-D-GalpA-(1->4)-D-GalpA in which the anomeric hydroxy group has alpha- configuration.


arabidopside C

An arabidopside that is arabidopside A in which the hydrogen of the hydroxy group at position 6 of the beta-D-galactosyl moiety is replaced by an alpha-D-galactosyl group.


A C-nucleoside phosphate consisting of N(1)-methylpseudouridine substituted at position 5' by a  monophosphate group.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as dodecanoyl (lauroyl).


A monogalactosyldiacylglycerol 34:4 in which the 1- and 2-acyl groups are specified as oleoyl and (7Z,10Z,13Z)-hexadecatrienoyl respectively.


arabidopside B

An arabidopside in which the glyceride moiety is acylated by cis-12-oxophytodienoyl groups at positions 1 and 2, and in which the and in which the carbohydrate moiety is a beta-D-galactopyranosyl group. The cyclopentenone moiety of both acyl groups is cis-disubstituted.


A 1,2-diacyl-3-(beta-D-galactosyl)-sn-glycerol in which the 1- and 2- acyl groups are specified as (9Z,12Z,15Z)-octadecatrienoyl and (7Z,10Z,13Z)-hexadecatrienoyl respectively.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the 1- and 2-acyl groups are specified as oleoyl and palmitoyl respectively.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as octanoyl.


A beta-D-galactopyranosyl diglyceride in which both acyl groups have a chain length between C6 and C12.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the groups at the 1- and 2-positions are both palmitoyl.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the groups at the 1- and 2-positions are both linoleoyl (9Z,12Z-octadecadienoyl).


arabidopside A

An arabidopside in which the glyceride moiety is acylated by cis-12-oxophytodienoyl and cis-dinor-oxyphytodienoyl groups at positions 1 and 2, respectively, and in which the carbohydrate moiety is a beta-D-galactopyranosyl group. The cyclopentenone moiety of both acyl groups is cis-disubstituted.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the groups at the 1- and 2-positions are both oleoyl.


A beta-D-galactopyranosyl diglyceride in which both acyl groups have a chain length of C12 or greater.


A class of galactoglycerolipids that consists of any 1,2-diacyl-sn-glycerol having a beta-D-galactosyl residue attached at position 3.


Grade 1 Abdominal Pain, CTCAE

description: Mild pain


Abdominal Pain, CTCAE

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


Grade 2 Abdominal Pain, CTCAE

description: Moderate pain; limiting instrumental ADL


Grade 3 Abdominal Pain, CTCAE

description: Severe pain; limiting self care ADL


Childhood Malignant Skin Neoplasm

description: A malignant neoplasm that affects the skin and occurs during childhood.


An  acetylenic compound that is deca-4,6-diyne substituted by methyl groups at positions 3 and 8 and hydroxy groups at positions 3 and 8 respectively.


Grade 3 Testicular Hemorrhage, CTCAE

description: Transfusion indicated; invasive intervention indicated; hospitalization


Nonrandom X Chromosome Inactivation

description: An indication that greater than 75% of cells in a sample demonstrate preferential inactivation of the same X chromosome.


LENACIL

A cyclopentapyrimidine that is 6,7-dihydro-1H-cyclopenta[d]pyrimidine-2,4(3H,5H)-dione substituted by a cyclohexyl group at position 3.


PYRABACTIN A

A sulfonamide obtained by formal condensation of the sulfo group of 4-bromonaphthalene-1-sulfonic acid with the exocyclic amino group of 2-pyridylmethylamine. Mimics the action of the abscisic acid, a phytohormone.


P Wave Abnormality by ECG Finding

description: An electrocardiographic finding for the P wave that is atypical either for the shape, duration, amplitude, axis or polarity. Abnormality of the P wave signifies aberrant propagation of the electrical impulse through the atria.


An N-substituted pyrraline formed via Maillard reaction of L-ornithine with glucose.


aklanonic acid

An anthraquinone that is anthracene-9,10-dione substituted by hydroxy groups at positions 4 and 5, a carboxymethyl group at position 2 and a 3-oxopentanoyl group at position 3.


An oxo seco-steroid that is 9-oxo-9,10-seco-23,24-bisnorchola-1,3,5(10)-trien-22-oic acid bearing an additional phenolic hydroxy substituent at position 3.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 5.


heptadecanol

A fatty alcohol consisting of a hydroxy function at any position of an unbranched saturated chain of seventeen carbon atoms.


A long-chain primary fatty alcohol that is heptadecane in which one of the terminal methyl hydrogens is replaced by a hydroxy group.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 3.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 7.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 6.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 9.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 4.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 8.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 2.


methyl beta-D-glucopyranuronate

A methyl D-glucopyranuronate in which the carbon bearing the anomeric hydroxy group has beta configuration.


A linear tetrasaccharide consisting of four hydroxymethyl alpha-D-galacturonosyl residues linked sequentially (1->4). It is an antihemorrhagic agent.


S-methyl 3-phospho-1-thio-D-glycerate

The methyl thiolester of 3-phospho-1-thio-D-glyceric acid.


A glycoside that consists of alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucose having a 2-(2-methoxycarbonylethylthio)ethyl (CETE) moiety attached to the reducing end anomeric centre.


A glycoside that consists of alpha-D-galactosyl-(1->4)-beta-D-galactose having a 2-(2-methoxycarbonylethylthio)ethyl (CETE) moiety attached to the reducing end anomeric centre.


methyl D-glucopyranuronate

A carbohydrate acid ester resulting from the formal condensation of the carboxy group of D-glucuronic acid with methanol.


methyl N-acetylneuraminate

The carbohydrate acid ester that is the methyl ester of N-acetylneuraminic acid.


methyl alpha-D-glucopyranuronate

A methyl D-glucopyranuronate in which the carbon bearing the anomeric hydroxy group has alpha configuration.


name: Diffuse Large B-Cell Lymphoma, Lymph Nodes of Multiple Sites

description: Evidence of diffuse large B-cell lymphoma, lymph nodes of multiple sites.


The 3-dehydro derivative of D-glucose.


diester

A diester is a compound containing two ester groups.


A diester resulting from the formal sequential esterification of the hydroxy group of one molecule of (3R)-3-hydroxybutyric acid with the carboxy group of a second, followed by the esterification of the hydroxy group of the product with the carboxy group of a third molecule of (3R)-3-hydroxybutyric acid. Isolated from the Japanese inedible mushroom Hypoxylon truncatum and also the sponge-derived actinomycete Micromonospora sp. RV43.


doxacurium chloride

The dichloride salt of doxacurium. It is a mixture of the (1R,2S,1'S,2'R), (1R,2S,1'R,2'S) and (1S,2R,1'S,2'R) stereoisomers (a meso isomer and two enantiomers, respectively) of 2,2'-[(1,4-dioxobutane-1,4-diyl)bis(oxypropane-3,1-diyl)]bis[6,7,8-trimethoxy-2-methyl-1-(3,4,5-trimethoxybenzyl)-1,2,3,4-tetrahydroisoquinolinium] dichloride, all of which are in a trans configuration at the 1 and 2 positions of the tetrahydroisoquinolinium rings. A competitive neuromuscular blocker, it is used to provide muscle relaxation in general anaesthesia and to facilitate mechanical ventilation in patients in intensive care.


ethyl 3-methylbutyl butanedioate

A dieter obtained by the forma condensation of the two carboxy groups of succinic acid with ethanol and 3-methylbutanol respectively.


An acetate ester obtained by the formal condensation of the two hydroxy groups of propane-1,3-diol with acetic acid.


BITOLTEROL MESYLATE

The methanesulfonate salt of bitolterol. A beta2-adrenergic receptor agonist, it is used for relief of bronchospasm in conditions such as asthma, chronic bronchitis and emphysema.


(R)-malathion

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


heliosupine

An azabicycloalkane compound having angelyloxy and echimidinyloxymethyl substituents attached to the ring system.


dimethyl azelate

A fatty acid methyl ester that is nonanedioic acid in which both carboxy groups are replaced by methoxycarbonyl groups.


metarylpicoxamid

An ester resulting from the formal condensation of the hydroxy group of (2S,3S)-3-(2-methylphenyl)butan-2-yl N-(3-hydroxy-4-methoxypyridine-2-carbonyl)-L-alaninate with the carboxy group of propanoic acid. It is a fungicide from Corteva Agriscience.


acene diester

Acenes containing two ester groups.


(S)-malaoxon

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


bolandiol dipropionate

A steroid ester resulting from the formal condensation of the carboxy group of propanoic acid with the 3beta and 17beta hydroxy groups of bolandiol.


A diester that is pentanedioic acid in which the carboxy groups are replaced by (4-formyl-2-methoxyphenoxy)carbonyl and {[(1R,2S,5R)-5-methyl-2-(propan-2-yl)cyclohexyl]oxy}carbonyl groups.


A phthalate ester obtained by the formal condensation of both the carboxy groups of phthalic acid with two molecules of  2-butoxyethanol.


A diester resulting from the formal condensation of the two hydroxy groups of 3-fluorocatechol with the carboxy groups of 3-hydroxybenzoic acid. It is an inhibitor of glucose transporter 1 (GLUT1) that suppresses tumour growth in mouse xenograft models.


meso-doxacurium chloride

The dichloride salt of meso-doxacurium.


(S)-bitolterol mesylate

The methanesulfonate salt of (S)-bitolterol.


(S)-nisoldipine

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


(S)-nicardipine

The S-enantiomer of nicardipine.


(S)-malathion

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


diethyl 2-sulfanylbutanedioate

A diester resulting from the formal condensation of the carboxy groups of thiomalic acid with ethanol. It is a metabolite of the insecticide malathion.


dimethyl terephthalate

A diester resulting from the formal condensation of the carboxy groups of terephthalic acid with methanol. It is a primary ingredient widely used in the manufacture of polyesters and industrial plastics.


A diester resulting from the formal condensation of the carboxylic acid group of beta-D-gentiobiosyl crocetin with the anomeric hydroxy group of beta-D-glucopyranose.


ethyl 2-phenylethyl dimethylmalonate

A dieter obtained by the formal condensation of the two carboxy groups of dimethylmalonic acid with ethanol and 2-phenylethanol respectively.


(R)-bitolterol mesylate

The methanesulfonate salt of (R)-bitolterol.


butyl butyryllactate

A diester resulting from the formal condensation of the carboxy group of 2-(butanoyloxy)propanoic acid with butan-1-ol.


A member of the class of  chromenes that is 2H-1-benzopyran-8-methanol diacetate substituted by methyl groups at positions 2 and 2, an ethyl group at position 4 and a 4-methoxyphenyl group at position 3 respectively.


diphenyl phthalate

The diphenyl ester of benzene-1,2-dicarboxylic acid.


disuccinimidyl suberate

A N-hydroxysuccinimide ester resulting from the formal condensation of the two carboxy groups of suberic acid with the hydroxy group of 1-hydroxypyrrolidine-2,5-dione. It is a noncleavable and membrane permeable crosslinker.


isooctanediol dibutyrate

A diester that is isooctane (2,2,4-trimethylpentane) in which two of the hydrogens (positions not specified) have been replaced by butyryloxy groups. Tentatively identified in human saliva and previously found on human skin.


fumonisin B4

A fumonisin that is fumonisin B2 that is lacking hydroxy group located gamma- to the amino substituent.


(1R,2S,1'R,2'S)-doxacurium chloride

The dichloride salt of (1R,2S,1'R,2'S)-doxacurium.