autoimmune myocarditis

Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.


viral myocarditis

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

Myocarditis that is caused by an infection with a viral agent.


early-onset myopathy with fatal cardiomyopathy


hypertrophic cardiomyopathy due to intensive athletic training


Noonan syndrome 3

Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.


Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.


autosomal recessive limb-girdle muscular dystrophy type 2F

Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.


idiopathic cardiomyopathy

A disease of the heart muscle or myocardium proper whose cause is unknown.


muscular dystrophy, pseudohypertrophic, with Internalized capillaries


hypertrophic cardiomyopathy 25

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.


autosomal recessive limb-girdle muscular dystrophy type 2C

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.


hypertrophic cardiomyopathy 6

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.


AL amyloidosis

AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.


familial isolated arrhythmogenic ventricular dysplasia, left dominant form


cirrhotic cardiomyopathy

Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.


symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.


cardiomyopathy, dilated, 2G

A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.


Gaucher disease type I

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.


An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.


dilated cardiomyopathy 1II

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.


Noonan syndrome 2

Noonan syndrome caused by autosomal recessive mutation(s) in the LZTR1 gene, encoding leucine-zipper-like transcriptional regulator 1.


Naxos disease

A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.


46,XY sex reversal 1

Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.


autosomal recessive limb-girdle muscular dystrophy type 2E

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.


Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.


arrhythmogenic right ventricular dysplasia 4

An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.


multiple acyl-CoA dehydrogenase deficiency, mild type


autosomal recessive limb-girdle muscular dystrophy type 2W

Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.


cardiomyopathy, familial hypertrophic 27

An autosomal recessive subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ALPK3 gene, encoding alpha-protein kinase 3.


autoimmune cardiomyopathy

An autoimmune form of cardiomyopathy.


dilated cardiomyopathy 1K

A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.


dilated cardiomyopathy 1Y

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.


hypertrophic cardiomyopathy 9

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.


cardiofaciocutaneous syndrome 4

Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.


Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11


familial isolated arrhythmogenic right ventricular dysplasia

Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.


dilated cardiomyopathy 2B

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.


congenital-onset Steinert myotonic dystrophy


cardiomyopathy, dilated, 2D

A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.


Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.


catecholaminergic polymorphic ventricular tachycardia 1

Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.


dilated cardiomyopathy 1A

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.


Noonan syndrome-like disorder with loose anagen hair

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.


tropical endomyocardial fibrosis

Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.


NKX2.5-related congenital, conduction and myopathic heart disease

A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.


mixed cerebral palsy

A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.


Stage IB Fallopian Tube Cancer AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Fallopian tube cancer with tumor limited to fallopian tubes; no tumor on fallopian tube surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


benign neoplasm of spinal cord

A benign neoplasm that involves the spinal cord.


Sacral Chordoma

A chordoma that arises from the sacral area.


sacral spinal canal and spinal cord meningioma

A meningioma that arises from the meninges of the sacral region of the spinal cord.


Lumbar Spine Neoplasm

A benign or malignant neoplasm that affects the lumbar region of the spine.


spinal cord lymphoma

A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.


childhood spinal cord tumor

A benign or malignant neoplasm affecting the spinal cord during childhood.


spinal chordoma

A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.


intradural extramedullary spinal canal neoplasm

A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.


thoracic spinal canal and spinal cord meningioma

A meningioma that arises from the meninges of the thoracic region of the spinal cord.


lumbar spinal canal and spinal cord meningioma

A meningioma that arises from the meninges of the lumbar region of the spinal cord.


spinal cord sarcoma

A sarcoma that arises from the spinal cord.


intraspinal meningioma

A meningioma that arises from the spinal meninges.


epidural spinal canal neoplasm

A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.


Cervical Spine Neoplasm

A benign or malignant neoplasm that affects the neck region of the spine.


Recurrent Childhood Spinal Cord Neoplasm

The reemergence of a spinal cord neoplasm in childhood after a period of remission.


Lumbosacral Spine Neoplasm

A benign or malignant neoplasm that affects the lumbosacral region of the spine.


epidural spinal canal angiolipoma

An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.


cauda equina neuroendocrine tumor

A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.


Refractory Childhood Spinal Cord Neoplasm

Spinal cord neoplasm in childhood which is resistant to treatment.


spinal multifocal clear cell meningioma

A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.


multiple spinal canal and spinal cord meningioma

Multiple meningiomas that arises from the spinal meninges.


Drop Metastasis in the Spinal Cord

An intradural extramedullary spinal metastasis from an intracranial tumor through the cerebrospinal fluid.


metastatic malignant neoplasm in the spinal cord

A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.


spinal cord melanoma

A melanoma (disease) that involves the spinal cord.


Anaplastic (Malignant) Intraspinal Meningioma

An anaplastic (malignant) meningioma involving the spinal meninges.


conus medullaris neoplasm

A neoplasm (disease) that involves the conus medullaris.


Sacral Spine Neoplasm

A benign or malignant neoplasm that affects the sacral region of the spine.


Recurrent Adult Spinal Cord Neoplasm

The reemergence of a spinal cord neoplasm in adulthood after a period of remission.


Refractory Adult Spinal Cord Neoplasm

Spinal cord neoplasm in adulthood which is resistant to treatment.


Refractory Spinal Cord Neoplasm

Spinal cord neoplasm resistant to treatment.


lumbosacral lipoma

A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.


Childhood Spinal Cord Ependymoma

An ependymoma of the spinal cord not associated with MYCN amplification and occurring in children.


epidural spinal canal meningioma

A meningioma that arises in the epidural spinal canal space.


Thoracic Chordoma

A chordoma that arises from the thoracic spine.


cauda equina neoplasm

A neoplasm involving a cauda equina.


Thoracic Spine Neoplasm

A benign or malignant neoplasm that affects the thoracic region of the spine.


Intraspinal Neoplasm

A neoplasm that occurs within the spinal canal including the spinal cord and surrounding paraspinal spaces.


cervical spinal canal and spinal cord meningioma

A meningioma that arises from the meninges of the cervical region of the spinal cord.


spinal cord lipoma

A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.


Recurrent Spinal Cord Neoplasm

The reemergence of a spinal cord neoplasm after a period of remission.


epididymal adenomatoid tumor

A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.


adenomatoid tumor

A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.


pleural adenomatoid tumor

A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.


uterine corpus adenomatoid tumor

A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.


fallopian tube adenomatoid tumor

A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.


specification of decreased petal number

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Any process that reduces the number of petals produced in a developing flower.


specification of plant organ number

The regionalization process that modulates the quantity of a particular type of plant organ.


specification of increased petal number

Any process that increases the number of petals produced in a developing flower.


specification of floral organ number

Any process that modulates the number of floral organs formed in a floral whorl.


specification of petal number

Any process that modulates the number of petals formed in a flower.


Bladder Non-Invasive Papillary Urothelial Carcinoma, High Grade

Bladder non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium).


Stage 0a Renal Pelvis and Ureter Cancer AJCC v7

Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Bladder Urothelial Proliferation of Uncertain Malignant Potential

Marked thickening of the bladder urothelium with minimal or absent cytologic atypia and absence of true papillary formations. It is found most commonly on routine follow-up cystoscopy in patients with a history of papillary urothelial neoplasms. (WHO 2016)


Stage 0a Bladder Cancer AJCC v8

Stage 0a includes: Ta, N0, M0. Ta: Non-invasive papillary carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


bladder flat intraepithelial lesion

A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.


Stage 0 Renal Pelvis and Ureter Cancer AJCC v7

Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0).  Ta: Papillary noninvasive carcinoma. Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Bladder Non-Invasive Urothelial Neoplasm

A non-invasive bladder neoplasm affecting the urothelium.


Stage 0is Renal Pelvis Cancer AJCC v8

Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0is Bladder Cancer AJCC v8

Stage 0is includes: Tis, N0, M0. Tis: Urothelial carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0a Renal Pelvis and Ureter Cancer AJCC v8

Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0is Renal Pelvis and Ureter Cancer AJCC v8


Stage 0is Renal Pelvis and Ureter Cancer AJCC v7

Stage 0is includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Non-invasive papillary urothelial carcinoma of bladder

Papillary urothelial neoplastic proliferation in the bladder with some level of cytological and architectural disorder visible at low to intermediate magnification, with no invasion beyond the basement membrane (Ta). (WHO 2016)


Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

Bladder non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). This type of carcinoma recurs frequently, may invade the bladder wall, and has a low risk of progression.


lysosomal proton-transporting V-type ATPase complex

biolink:CellularComponent biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A proton-transporting two-sector ATPase complex found in the lysosomal membrane, where it acts as a proton pump to mediate acidification of the lysosomal lumen.


anterior cranial fossa meningioma

A meningioma that affects the anterior cranial fossa.


olfactory groove meningioma

A meningioma that affects the olfactory sulcus.


cerebral falx meningioma

A meningioma that affects the falx cerebri.


cavernous sinus meningioma

A meningioma that affects the cavernous sinus.


positive regulation of hair placode formation

Any process that increases the rate, frequency, or extent of hair follicle placode formation, the developmental process in which a hair placode forms. An hair follicle placode is a thickening of the ectoderm that will give rise to the hair follicle bud.


negative regulation of presynaptic active zone assembly

Any process that stops, prevents or reduces the frequency, rate or extent of presynaptic active zone assembly.


negative regulation of presynapse assembly

Any process that stops, prevents or reduces the frequency, rate or extent of presynapse assembly.


cellular response to diamide

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diamide (N,N,N',N'-tetramethyldiazene-1,2-dicarboxamide) stimulus.


negative regulation of low-density lipoprotein particle receptor binding

Any process that stops, prevents or reduces the frequency, rate or extent of low-density lipoprotein particle receptor binding.


cortisone reductase deficiency 2

Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.


negative regulation of glutamatergic neuron differentiation

Any process that stops, prevents or reduces the frequency, rate or extent of glutamatergic neuron differentiation.


benign myoepithelioma of salivary gland

A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter.


autosomal dominant coarctation of aorta

Autosomal dominant form of aorta coarctation.


thiazolidinemonocarboxylic acid

A thiazolidine or thiazolidine derivative carrying a single carboxy substituent.


biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Catalysis of the reaction: 2-keto-3-deoxygalactonate = D-glyceraldehyde + pyruvate.


cellular response to acetylcholine

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an acetylcholine stimulus.


platelet maturation

A developmental process, independent of morphogenetic (shape) change, that is required for a platelet to attain its fully functional state. A platelet is a non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation.


positive regulation of opsonization

Any process that activates or increases the frequency, rate or extent of opsonization.


fibromatosis, gingival, 1

Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.


Malposition of heart and cardiac apex

Any anatomical misplacement of the heart and cardiac apex such that the organ occupies an unusual location within the body.


lipoid proteinosis

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.


dorsal hypohyal-ventral hypohyal joint

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Joint that articulates the dorsal hypohyal and ventral hypohyal bones. Dorsal hypohyal-ventral hypohyal joint is paired.


visceral yolk sac

Extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells.


membranous layer

A thin sheet or layer of pliable tissue, serving as a covering or envelope of a part, as the lining of a cavity, as a partition or septum, or to connect two structures.


pericranium

Periosteum that is part of a skull.


endosteum

A thin layer of connective tissue that lines the surface of the bony tissue that forms the medullary cavity of long bones.


periosteum of long bone

A periosteum that is part of a long bone.


periosteum of epiphysis

A periosteum that is part of a epiphysis [Automatically generated definition].


yolk sac

A sac-like expansion of the ventral wall of the intestine, narrowed into a yolk stalk near the body[Hyman's]. Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes[WP].


aponeurosis

A sheet of extracellular matrix.


parietal yolk sac

Tissue that consists of two cellular layers (parietal endoderm and trophoblast) separated by a relatively thick nonvascular basement membrane (Reichert's membrane), and acts as a protective layer to supports and facilitates transport of nutrients between the uterine tissue and the yolk sac cavity.


Scrotal Sebaceous Cyst

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

A firm nodule on the skin of the scrotum that is caused by an accumulation of sebum resulting from sebaceous gland blockage.


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: auxin(out) + H+(out) = auxin(in) + H+(in).


parasympathetic cholinergic nerve

biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A parasympathetic nerve that releases acetylcholine.


parasympathetic nerve

A nerve that is part of a parasympathetic nervous system [Automatically generated definition].


short ciliary nerve

A branch of the ciliary ganglion that innervates the ciliary muscles, the iris, and the tunics of the eyeball.


descending branch of the vagus nerve

Major branch of the vagus supplying parasympathetic innervation to viscera.


pelvic splanchnic nerve

A splanchnic nerves that arises from sacral spinal nerves S2, S3, S4 to provide parasympathetic innervation to the hindgut.


Intratubular malignant germ cells

A non-invasive lesion of the testis, characterized by the presence of malignant large germ cells with abundant cytoplasm in the seminiferous tubules. It may be associated with undescended or atrophic testis and infertility. The vast majority of cases progress to invasive germ cell tumors.


Testicular Cancer by AJCC v6 and v7 Stage

A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 6th and 7th editions.


Stage IB Testicular Cancer AJCC v6 and v7

Stage IB includes: (pT2, N0, M0, S0); (pT3, N0, M0, S0); (pT4, N0, M0, S0).  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


Stage IIB Testicular Cancer AJCC v6 and v7

Stage IIB includes: (Any pT/TX, N2, M0, S0); (Any pT/TX, N2, M0, S1).  pTX: Primary tumor cannot be assessed.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


Stage I Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7

Stage I includes: pT1-4, N0, M0, SX.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)


Stage IA Testicular Cancer AJCC v6 and v7

Stage IA includes: pT1, N0, M0, S0.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


Stage IIIB Testicular Cancer AJCC v6 and v7

Stage IIIB includes: (Any pT/TX, N1-3, M0, S2); (Any pT/TX, Any N, M1a, S2).  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis. S2: LDH 1.5-10 x N (N indicates the upper limit of normal for the LDH assay) or hCG 5,000-50,000 or AFP 1,000-10,000.  (AJCC 6th and 7th eds.)


Stage IIA Testicular Cancer AJCC v6 and v7

Stage IIA includes: (Any pT/TX, N1, M0, S0); (Any pT/TX, N1, M0, S1).  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. (AJCC 6th and 7th eds.)


Intratubular Seminoma

Intratubular germ cell neoplasia characterized by the complete filling of the seminiferous tubules by seminoma cells.


Stage IIIC Testicular Cancer AJCC v6 and v7

Stage IIIC includes: (Any pT/TX, N1-3, M0, S3); (Any pT/TX, Any N, M1a, S3); (Any pT/TX, Any N, M1b, Any S).  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis.  M1b: Distant metastasis other than to non-regional lymph nodes and lung.  S3: LDH more than 10 x N (N indicates the upper limit of normal for the LDH assay) or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


Testicular germ cell tumor mixed stage III

Stage III includes: Any pT/TX, Any N, M1, SX.  M1: Distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


Stage II Testicular Seminoma AJCC v6 and v7

Stage II includes: Any pT/TX, N1-3, M0, SX.  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


Stage IIC Testicular Cancer AJCC v6 and v7

Stage IIC includes: (Any pT/TX, N3, M0, S0); (Any pT/TX, N3, M0, S1).  pTX: Primary tumor cannot be assessed.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


Stage III Testicular Cancer AJCC v6 and v7


Stage III Testicular Seminoma AJCC v6 and v7


Stage 0 Testicular Cancer AJCC v6 and v7

Stage 0 includes: pTis, N0, M0, S0.  pTis: Intratubular germ cell neoplasia (carcinoma in situ).  N0: regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


Stage I Testicular Cancer AJCC v6 and v7


Stage IS Testicular Cancer AJCC v6 and v7

Stage IS includes: Any pT/TX, N0, M0, S1-3.  pTX: Primary tumor cannot be assessed.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  S2: LDH 1.5-10 x N or hCG 5,000-50,000 or AFP 1,000-10,000.  S3: LDH more than 10 x N or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


Testicular germ cell tumor mixed stage I


Stage II Testicular Cancer AJCC v6 and v7


Stage IIIA Testicular Cancer AJCC v6 and v7

Stage IIIA includes: (Any pT/TX, Any N, M1a, S0); (Any pT/TX, Any N, M1a, S1).  M1a: Non-regional nodal or pulmonary metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


Stage II Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


Testicular embryonal carcinoma stage III


Testicular germ cell tumor mixed stage II


Stage III Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


fucosidosis

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.


myosin XVI complex

A myosin complex containing a class XVI myosin heavy chains and associated light chains; myosin XVI heavy chains contain ankyrin repeat.


modulation by virus of host protein transport

Any viral process that modulates the frequency, rate or extent of protein transport in its host organism.


Bone Hibernoma

A benign neoplasm that is composed of brown adipocytes and arises within or on the surface of bone.


negative regulation of isoprene biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of isoprene biosynthetic process.


regulation of isoprene biosynthetic process

Any process that modulates the frequency, rate or extent of isoprene biosynthetic process.


positive regulation of isoprene biosynthetic process

Any process that activates or increases the frequency, rate or extent of isoprene biosynthetic process.


salicylic acid catabolic process

The chemical reactions and pathways resulting in the breakdown of salicylic acid (2-hydroxybenzoic acid), a derivative of benzoic acid.


Human Papillomavirus-Related Head and Neck Squamous Cell Carcinoma of Unknown Primary

A squamous cell carcinoma associated with human papilloma virus that has metastasized to the head and neck region from an unknown primary anatomic site.


superoxide-generating NADPH oxidase activity

Catalysis of the reaction: NADPH + 2 O2 = H+ + NADP+ + 2 superoxide.


NADH oxidase H202-forming activity

Catalysis of the reaction: NADH + H+ + O2 = NAD + hydrogen peroxide (H2O2).


NADPH oxidase H202-forming activity

Catalysis of the reaction: NADPH + H+ + O2 = NADP + hydrogen peroxide (H2O2).


superoxide-generating NADH oxidase activity

Catalysis of the reaction: NADH + 2 O2 = H+ + NAD+ + 2 superoxide.


Deep Tendon Reflex

Contraction of a muscle triggered by a signal from a muscle spindle in response to a stimulus applied to a specific trigger point on the body. The strength of the response can provide insight into central and peripheral nerve performance.


Catalysis of the reaction: 2 H+[side 1] + 2 oxidized plastocyanin + plastoquinol-1 = 2 H+[side 2] + 2 reduced plastocyanin + plastoquinone. This reaction involves the concomitant transfer of 2 H+ ions across a membrane.


Lymphadenopathy with Polyclonal Hypergammaglobulinemia

A finding indicating the presence of enlarged lymph nodes and associated polyclonal hypergammaglobulinemia.


Localized enlarged lymph nodes

Lymphadenopathy restricted to nearby lymph nodes that has not affected other distal nodes.


Dermatopathic lymphadenitis

Regional lymph node enlargement with a distinctive reactive process that is characterized by paracortical hyperplasia composed of interdigitating dendritic cells, Langerhans cells, macrophages containing melanin pigment, and small T-cells, due to chronic inflammatory skin disease.


Atypical Lymph Node

A lymph node that deviates from usual in terms of size, shape, and internal architecture.


Recurrent Childhood Osteosarcoma

The reemergence of childhood osteosarcoma after a period of remission.


congenital or early infantile CACH syndrome


leukoencephalopathy with vanishing white matter

A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes "foamy'' aspect.


leukoencephalopathy, progressive, with ovarian failure


leukoencephalopathy with vanishing white matter 1

Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.


regulation of cellular hyperosmotic salinity response

Any process that modulates the frequency, rate or extent of cellular hyperosmotic salinity response.


negative regulation of cellular hyperosmotic salinity response

Any process that stops, prevents or reduces the frequency, rate or extent of cellular hyperosmotic salinity response.


olfactory bulb interneuron fate commitment

The process in which the developmental fate of a neuroblast becomes restricted such that it will develop into an interneuron residing in the olfactory bulb.


transient congenital hypothyroidism

A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.


bone dysplasia, lethal Holmgren type

Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.


saturated fatty acid

Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess.


branched-chain saturated fatty acid

Any saturated fatty acid with a carbon side-chain or isopropyl termination.


Recurrent Dedifferentiated Chordoma

The reemergence of dedifferentiated chordoma after a period of remission.


Recurrent Chordoma

The reemergence of chordoma after a period of remission.


Locally Recurrent Chordoma

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


Stage IV Primary Peritoneal Cancer AJCC v8

Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)


Refractory Primary Peritoneal Endometrioid Adenocarcinoma

Primary peritoneal endometrioid adenocarcinoma that is resistant to treatment.


Refractory Primary Peritoneal Clear Cell Adenocarcinoma

Primary peritoneal clear cell adenocarcinoma that is resistant to treatment.


Recurrent Primary Peritoneal Clear Cell Adenocarcinoma

The reemergence of primary peritoneal clear cell adenocarcinoma after a period of remission.


Stage IIIB Primary Peritoneal Cancer AJCC v8

Stage IIIB includes: T3b, N0/N1, M0. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Advanced Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.


Clear cell adenocarcinoma of peritoneum

An extremely rare adenocarcinoma arising from the peritoneum. It is composed of malignant glandular epithelium containing clear cells.


Refractory Primary Peritoneal Transitional Cell Carcinoma

Primary peritoneal transitional cell carcinoma that is resistant to treatment.


Refractory Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that is resistant to treatment.


Metastatic Primary Peritoneal Carcinoma

A carcinoma that arises from the peritoneum and has metastasized to another anatomic site.


Stage III Primary Peritoneal Cancer AJCC v7

Stage III includes: T3, N0, M0.  T3: Microscopically confirmed peritoneal tumor outside pelvis.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


Metastatic Primary Peritoneal High Grade Serous Adenocarcinoma

Primary peritoneal high-grade serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Stage IIIC Primary Peritoneal Cancer AJCC v7

Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal tumor beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


Recurrent Primary Peritoneal Adenocarcinoma

The reemergence of primary peritoneal adenocarcinoma after a period of remission.


Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma

Primary peritoneal high-grade serous adenocarcinoma that is not amenable to surgical resection.


Refractory Primary Peritoneal Serous Adenocarcinoma

Primary peritoneal serous adenocarcinoma that is resistant to treatment.


Stage II Primary Peritoneal Cancer AJCC v8

Stage II includes: T2, N0, M0. T2: Primary peritoneal cancer. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Metastatic Primary Peritoneal Serous Adenocarcinoma

Primary peritoneal serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Stage IIA Primary Peritoneal Cancer AJCC v8

Stage IIA includes: T2a, N0, M0. T2a: Primary peritoneal cancer with extension and/or implants on the uterus and/or fallopian tube(s) and/or ovaries. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Locally Advanced Unresectable Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Recurrent Primary Peritoneal Low Grade Serous Adenocarcinoma

The reemergence of primary peritoneal low grade serous adenocarcinoma after a period of remission.


Primary Peritoneal Transitional Cell Carcinoma

An extremely rare transitional cell carcinoma that arises from the peritoneum.


Platinum-Resistant Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that progresses between one and six months of completing the last platinum therapy.


Unresectable Primary Peritoneal Endometrioid Adenocarcinoma

Primary peritoneal endometrioid adenocarcinoma that is not amenable to surgical resection.


Primary Peritoneal Undifferentiated Carcinoma

An extremely rare carcinoma arising from the peritoneum. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation.


Unresectable Primary Peritoneal Serous Adenocarcinoma

Primary peritoneal serous adenocarcinoma that is not amenable to surgical resection.


Recurrent Primary Peritoneal Transitional Cell Carcinoma

The reemergence of primary peritoneal transitional cell carcinoma after a period of remission.


Stage IIIB Primary Peritoneal Cancer AJCC v7

Stage IIIB includes: T3b, N0, M0.  T3b: Macroscopic peritoneal tumor beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

Primary peritoneal high grade serous adenocarcinoma that is resistant to treatment.


Recurrent Primary Peritoneal Undifferentiated Carcinoma

The reemergence of primary peritoneal undifferentiated carcinoma after a period of remission.


Refractory Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that is resistant to treatment.


Primary Peritoneal Cancer by AJCC v8 Stage

A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 8th edition.


Primary Peritoneal Low Grade Serous Adenocarcinoma

A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by low grade histopathologic features.


Stage III Primary Peritoneal Cancer AJCC v8

Stage III includes: IIIA: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Primary Peritoneal Cancer by AJCC v7 Stage

A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 7th edition.


Unresectable Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that is not amenable to surgical resection.


Primary Peritoneal Endometrioid Adenocarcinoma

An exceedingly rare endometrioid adenocarcinoma arising from the peritoneum.


Recurrent Primary Peritoneal High Grade Serous Adenocarcinoma

The reemergence of primary peritoneal high-grade serous adenocarcinoma after a period of remission.


Metastatic Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that has spread from its original site of growth to another anatomic site.


Primary Peritoneal Adenocarcinoma

A rare adenocarcinoma that arises from the lining of the peritoneum.


Stage IV Primary Peritoneal Cancer AJCC v7

Stage IV includes: Any T, Any N, M1.  M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 7th Ed.)


Platinum-Refractory Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that progresses during platinum therapy or within one month of completing the last platinum therapy.


Unresectable Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that is not amenable to surgical resection.


Stage IVA Primary Peritoneal Cancer AJCC v8

Stage IVA includes: Any T, Any N, M1a. M1a: Primary peritoneal cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)


Recurrent Primary Peritoneal Endometrioid Adenocarcinoma

The reemergence of primary peritoneal endometrioid adenocarcinoma after a period of remission.


Recurrent Primary Peritoneal Carcinoma

The reemergence of primary peritoneal carcinoma after a period of remission.


Recurrent Platinum-Resistant Primary Peritoneal Carcinoma

The reemergence of platinum-resistant primary peritoneal carcinoma after a period of remission.


Refractory Primary Peritoneal Low Grade Serous Adenocarcinoma

Primary peritoneal low grade serous adenocarcinoma that is resistant to treatment.


Stage IIIA Primary Peritoneal Cancer AJCC v7

Stage IIIA includes: T3a, N0, M0.  T3a: Microscopic peritoneal tumor beyond pelvis (no macroscopic tumor). N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


Refractory Primary Peritoneal Undifferentiated Carcinoma

Primary peritoneal undifferentiated carcinoma that is resistant to treatment.


Locally Advanced Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage IIIC Primary Peritoneal Cancer AJCC v8

Stage IIIC includes: T3c, N0/N1, M0. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIIA Primary Peritoneal Cancer AJCC v8

Stage IIIA includes: T3a, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Recurrent Primary Peritoneal Serous Adenocarcinoma

The reemergence of primary peritoneal serous adenocarcinoma after a period of remission.


Stage IIB Primary Peritoneal Cancer AJCC v8

Stage IIB includes: T2b, N0, M0. T2b: Primary peritoneal cancer with tumor extension to and/or implants on other pelvic tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVB Primary Peritoneal Cancer AJCC v8

Stage IVB includes: Any T, Any N, M1b. M1b: Primary peritoneal cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)


Primary Peritoneal High Grade Serous Adenocarcinoma

A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by high grade histopathologic features.


Platinum-Sensitive Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that has a documented response to platinum-based chemotherapy.


glutamate catabolic process via 2-hydroxyglutarate

The anaerobic chemical reactions and pathways resulting in the breakdown of glutamate, via the intermediate 2-hydroxyglutarate, yielding energy in the form of ATP.


anaerobic glutamate catabolic process

The anaerobic chemical reactions and pathways resulting in the breakdown of glutamate, yielding energy in the form of ATP.


glutamate catabolic process via mesaconate and citramalate

The anaerobic chemical reactions and pathways resulting in the breakdown of glutamate via the intermediates mesaconate and S-citramalate, yielding energy in the form of ATP.


great vessel cancer

A malignant neoplasm arising from the great vessels.


Malignant Inferior Vena Cava Neoplasm

A malignant neoplasm involving the inferior vena cava.


pulmonary artery choriocarcinoma

A rare choriocarcinoma that arises from a pulmonary artery.


Malignant Superior Vena Cava Neoplasm

A malignant neoplasm involving the superior vena cava.


superior vena cava leiomyosarcoma

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


Benign neoplasm of great vessels

A benign neoplasm involving the great vessel.


aortic malignant tumor

A cancer that involves the aorta.


negative regulation of sperm capacitation

Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation.


positive regulation of neuron remodeling

Any process that activates or increases the frequency, rate or extent of neuron remodeling.


regulation of neuron remodeling

Any process that modulates the frequency, rate or extent of neuron remodeling.


negative regulation of root hair elongation

Any process that stops, prevents or reduces the frequency, rate or extent of root hair elongation.


positive regulation of sperm capacitation

Any process that activates or increases the frequency, rate or extent of sperm capacitation.


negative regulation of erythrocyte enucleation

Any process that decreases the frequency, rate or extent of erythrocyte enucleation.


positive regulation of erythrocyte enucleation

Any process that increases the frequency, rate or extent of erythrocyte enucleation.


regulation of erythrocyte enucleation

Any process that modulates the frequency, rate or extent of erythrocyte enucleation.


positive regulation of bicoid mRNA localization

Any process that activates or increases the frequency, rate or extent of the process in which bicoid mRNA is transported to, or maintained in, a specific location.


negative regulation of meiotic cell cycle process involved in oocyte maturation

Any process that stops, prevents or reduces the frequency, rate or extent of meiotic cell cycle process involved in oocyte maturation.


regulation of sperm capacitation

Any process that modulates the frequency, rate or extent of sperm capacitation.


negative regulation of neuron remodeling

Any process that stops, prevents or reduces the frequency, rate or extent of neuron remodeling.


autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


Metastatic Malignant Glomus Tumor

A malignant glomus tumor that has spread from its original site of growth to another anatomic site.


Locally Advanced Malignant Glomus Tumor

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


Unresectable Malignant Glomus Tumor

A malignant glomus tumor that is not amenable to surgical resection.


Refractory Malignant Glomus Tumor

A malignant glomus tumor that is resistant to treatment.


Decreased Pigmentation

Decrease in the amount of pigment.


corticospinal neuron axon guidance through spinal cord

The process in which the migration of an axon growth cone of a pyramidal cell that is part of the corticospinal tract is directed after decussation through the spinal cord in response to a combination of attractive and repulsive cues.


sweat gland of eyelid

Glands of Moll, also known as ciliary glands, are modified apocrine sweat glands that are found on the margin of the eyelid. They are next to the base of the eyelashes, and anterior to the Meibomian glands within the distal eyelid margin. These glands are relatively large and tubular-shaped. The glands of Moll are named after Dutch oculist Jacob Anton Moll (1832-1914). Glands of Moll empty into the adjacent lashes. Glands of Moll and Zeis secrete lipid that adds to the superficial layer of the tear film, retarding evaporation. The glands of Moll are prone to infection and blockage of its duct with sebum and cell debris. Blockage of the gland's duct causes swelling which can manifest itself as a stye.


eyelid gland

Any gland that is part of an eyelid. This includes sebaceous glands (Zeis gland, tarsal gland) and sweat glands (Moll's gland).


gland of Zeis

Glands of Zeis are unilobar sebaceous glands located on the margin of the eyelid. The glands of Zeis service the eyelash. These glands produce an oily substance that is issued through the excretory ducts of the sebaceous lobule into the middle portion of the hair follicle.


sebaceous gland of eyelid

Any of the sebaceous glands that are in the eyelid. Examples: gland of Zeis (services eyelashes), gland of Meibom (tarsal gland - unconnected to eyelids).


Ciaccio's gland

Ciaccio's glands are small tubular accessory lacrimal glands (glandulae lacrimales accessoriae) found in the lacrimal caruncle of the eyelid. They are located in the upper border of the tarsus, approximately in the middle between the extremities of the tarsal glands. Sometimes they are situated slightly above the tarsus. There are usually 2 to 5 of these glands in the upper eyelid, and their function is to produce tears which are secreted onto the surface of the conjunctiva. They are named after Italian anatomist Giuseppe Vincenzo Ciaccio (1824b1901), who described these glands in 1874. They are sometimes called Wolfring's glands after Polish ophthalmologist Emilj von Wolfring (1832-1906), who described them during the same time period as did Ciaccio. Another type of accessory lacrimal gland are Krause's glands, which are smaller, more numerous than Ciaccio's glands and are found along the superior and inferior fornices of the conjunctival sac.


FIGO Stage III Carcinoma of the Fallopian Tube

Stage III includes: (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T3c, N0, M0).  T3: Tumor involves one or both fallopian tubes, with peritoneal implants outside the pelvis.  T3a: Microscopic peritoneal metastasis outside the pelvis.  T3b: Macroscopic peritoneal metastasis outside the pelvis 2cm or less in greatest dimension.  T3c: Peritoneal metastasis more than 2cm in diameter. (AJCC 6th ed.)


proline salvage

Any process which produces the amino acid proline from derivatives of it, without de novo synthesis.


intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


Stage IA2 Lung Cancer AJCC v8

Stage IA2 includes: T1b, N0, M0. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)


long nephron

Long nephrons are associated with juxtamedullary glomeruli and extend to the inner medulla.


lipoprotein biosynthetic process via signal peptide cleavage

The chemical reactions and pathways by which signal peptide cleavage leads to formation of a water-soluble protein-lipid complex.


structural constituent of egg coat

The action of a molecule that contributes to the structural integrity of an egg coat. An egg coat is a specialized extracellular matrix that surrounds the ovum of animals. The egg coat provides structural support and can play an essential role in oogenesis, fertilization and early development.


UDP-3-O-[3-hydroxymyristoyl] N-acetylglucosamine deacetylase activity

Catalysis of the removal of an acetyl group from the 2-N position of glucosamine in the lipid A precursor UDP-3-O-(R-3-hydroxymyristoyl)-N-acetylglucosamine.


Metastatic malignant neoplasm to prostate

The spread of a malignant neoplasm to the prostate gland from an adjacent or distant anatomic site.


Secondary Prostate Urothelial Carcinoma

A transitional cell carcinoma that has spread to the prostate gland directly from the bladder.


Metastatic malignant neoplasm to seminal vesicle

The spread of a malignant neoplasm to the seminal vesicle from an adjacent or distant anatomic site.


Metastatic malignant neoplasm to testis

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


Metastatic malignant neoplasm to epididymis

A malignant neoplasm that has metastasized to the epididymis from another anatomic site.


Metastatic malignant neoplasm to penis

The spread of a malignant neoplasm to the penis from an adjacent or distant anatomic site.


pupal chitin-based cuticle development

Synthesis and deposition of a chitin-based pupal cuticle. At the end of the prepupal period the insect is covered by the pupal cuticle which continues to be elaborated into the pupal period. An example of this is found in Drosophila melanogaster.


atrazine catabolic process to urea

The chemical reactions and pathways resulting in the breakdown of atrazine, a triazine ring-containing herbicide, into urea.


formamide catabolic process

The chemical reactions and pathways resulting in the breakdown of formamide, the simplest amide, HCONH2, derived from formic acid.


urea catabolic process

The chemical reactions and pathways resulting in the breakdown of urea, the water soluble compound O=C-(NH2)2.


allantoin assimilation pathway

The pathways by which allantoin is processed and converted to ureidoglycolate, and then into metabolically useful substrates. E. coli are able to utilize allantoin as a sole nitrogen source under anaerobic conditions by converting it to ureidoglycolate; this may be further metabolized to produce glyoxylate and thence 3-phosphoglycerate, or alternatively oxidized to oxolureate, which can converted into oxamate and carbamoylphosphate. This may then be further metabolized to CO2, NH4+ and ATP.


allantoin catabolic process

The chemical reactions and pathways resulting in the breakdown of allantoin, (2,5-dioxo-4-imidazolidinyl)urea.


biotin catabolic process

The chemical reactions and pathways resulting in the breakdown of biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid.


adenine deaminase activity

Catalysis of the reaction: adenine + H2O = hypoxanthine + NH3.


A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.


Stage 0 Hilar Cholangiocarcinoma AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Locally Advanced Distal Bile Duct Carcinoma

Distal bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage IVB Intrahepatic Cholangiocarcinoma AJCC v7

Stage IVB includes: Any T, Any N, M1.  M1: Distant metastasis. (from AJCC 7th Ed.)


Stage IA Intrahepatic Cholangiocarcinoma AJCC v8

Stage IA includes: T1a, N0, M0. T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Cholangiocarcinoma resectable

Cholangiocarcinoma that is amenable to surgical resection.


Metastatic Bile Duct Carcinoma

A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has metastasized to other anatomic sites.


Advanced Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Stage IVB Hilar Cholangiocarcinoma AJCC v8

Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


Stage IB Distal Bile Duct Cancer AJCC v7

Stage IB includes: T2, N0, M0. T2: Tumor invades beyond the wall of the bile duct.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Localized Extrahepatic Bile Duct Carcinoma

A carcinoma that arises from the extrahepatic bile ducts and it has not spread to other anatomic sites.


Stage IIIB Hilar Cholangiocarcinoma AJCC v7

Stage IIIB includes: T1-3, N1, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis. (from AJCC 7th Ed.)


Hilar Cholangiocarcinoma by AJCC v7 Stage

A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.


Cholangiocarcinoma non-resectable

Cholangiocarcinoma that is not amenable to surgical resection.


Stage IVA Intrahepatic Cholangiocarcinoma AJCC v7

Stage IVA includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor with periductal invasion. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Distal Bile Duct Adenocarcinoma

An adenocarcinoma that arises from the common bile duct distal to the insertion of the cystic duct.


Clear Cell Intrahepatic Cholangiocarcinoma

A morphologic variant of intrahepatic cholangiocarcinoma composed of malignant glandular epithelium, an abundant fibrous stroma, and the presence of clear cells. Clinical symptoms include abdominal pain, weight loss and malaise.


Stage I Distal Bile Duct Cancer AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor invading the bile duct wall with a depth less than 5 mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Metastatic Hilar Cholangiocarcinoma

Hilar cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


Stage IIIC Hilar Cholangiocarcinoma AJCC v8

Stage IIIC includes: Any T, N1, M0. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Unresectable Distal Bile Duct Adenocarcinoma

Distal bile duct adenocarcinoma that is not amenable to surgical resection.


Recurrent Distal Bile Duct Adenocarcinoma

The reemergence of distal bile duct adenocarcinoma after a period of remission.


Extrahepatic Bile Duct Neuroendocrine Carcinoma

An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.


Stage I Hilar Cholangiocarcinoma AJCC v7

Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Locally Advanced Unresectable Cholangiocarcinoma

Cholangiocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Stage IV Hilar Cholangiocarcinoma AJCC v8

Stage IV includes: IVA: (Any T, N2, M0); IVB: (Any T, Any N, M1). N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Bile duct cancer resectable

Extrahepatic bile duct carcinoma that is amenable to surgical removal.


Locally Advanced Bile Duct Carcinoma

A bile duct carcinoma that has spread to nearby tissues or lymph nodes.


Cholangiocarcinoma metastatic

A cholangiocarcinoma that has metastasized to other anatomic sites.


Advanced Bile Duct Carcinoma

A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has spread extensively to other anatomic sites or is no longer responding to treatment.


Stage IVA Hilar Cholangiocarcinoma AJCC v7

Stage IVA includes: T4, N0-1, M0. T4: Tumor invades the main portal vein or its branches bilaterally; or the common hepatic artery; or the second-order biliary radicals bilaterally; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement.  N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis.  (from AJCC 7th Ed.)


Locally Advanced Intrahepatic Cholangiocarcinoma

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


Metastatic Distal Bile Duct Adenocarcinoma

Distal bile duct adenocarcinoma that has spread from its original site of growth to another anatomic site.


intestinal type adenocarcinoma of extrahepatic bile duct

An adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells.


Bile duct cancer recurrent

The reemergence of bile duct carcinoma after a period of remission.


Stage III Intrahepatic Cholangiocarcinoma AJCC v8

Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); (Any T, N1, M0). T3: Tumor perforating the visceral peritoneum. T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage IV Distal Bile Duct Cancer AJCC v8

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


Stage III Intrahepatic Cholangiocarcinoma AJCC v7

Stage III includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum or involving the local extra hepatic structures by direct invasion. N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage IIIA Distal Bile Duct Cancer AJCC v8

Stage IIIA includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Refractory Bile Duct Carcinoma

Bile duct carcinoma that is resistant to treatment.


Stage IIIB Intrahepatic Cholangiocarcinoma AJCC v8

Stage IIIB includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


The reemergence of intrahepatic cholangiocarcinoma after a period of remission.


Recurrent Extrahepatic Bile Duct Carcinoma

The reemergence of an extrahepatic bile duct carcinoma after a period of remission.


Refractory Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that is resistant to treatment.


anaplastic carcinoma of extrahepatic bile duct

A carcinoma without evidence of differentiation arising from the extrahepatic bile ducts.


Hilar Cholangiocarcinoma by AJCC v8 Stage

A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition. Hilar well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.)


Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ (intraductal tumor).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage II Distal Bile Duct Cancer AJCC v8

Stage II includes: IIA: (T1, N1, M0); (T2, N0, M0); IIB: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage IVA Hilar Cholangiocarcinoma AJCC v8

Stage IVA includes: Any T, N2, M0. N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Hilar Cholangiocarcinoma AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage II Hilar Cholangiocarcinoma AJCC v8

Stage II includes: T2a-b, N0, M0. T2a: Tumor invading beyond the wall of the bile duct to surrounding adipose tissue. T2b: Tumor invading adjacent hepatic parenchyma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage II Intrahepatic Cholangiocarcinoma AJCC v8

Stage II includes: T2, N0, M0. T2: Solitary tumor with intrahepatic vascular invasion, or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma

An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


Intrahepatic Cholangiocarcinoma by AJCC v8 Stage

A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition.


Stage IV Intrahepatic Cholangiocarcinoma AJCC v8

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


Stage IIB Distal Bile Duct Cancer AJCC v7

Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T1: Tumor confined to the bile duct histologically.  T2: Tumor invades beyond the wall of the bile duct. T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage IIIA Hilar Cholangiocarcinoma AJCC v8

Stage IIIA includes: T3, N0, M0. T3: Tumor invading unilateral branches of the portal vein or hepatic artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Distal Bile Duct Cancer by AJCC v8 Stage

A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to bile duct adenocarcinomas, biliary intraepithelial neoplasia, high-grade neuroendocrine carcinomas, and papillary carcinomas that arise from the distal bile duct. Tumors arising in the ampulla of Vater, sarcomas, and well-differentiated neuroendocrine tumors (carcinoids) are not staged using this staging system. (from AJCC 8th Ed.)


Metastatic Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that has spread from its original site of growth to another anatomic site.


Extrahepatic Bile Duct Adenocarcinoma, Biliary Type

A well or moderately differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of malignant tubular glands.


Stage IB Intrahepatic Cholangiocarcinoma AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


carcinosarcoma of extrahepatic bile duct

A carcinoma that arises from the extrahepatic bile ducts and it is characterized by the presence of a sarcomatous component.


Stage IV Distal Bile Duct Cancer AJCC v7

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis.  (from AJCC 7th Ed.)


Stage IIB Distal Bile Duct Cancer AJCC v8

Stage IIB includes: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Hilar Cholangiocarcinoma AJCC v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage IA Distal Bile Duct Cancer AJCC v7

Stage IA includes: T1, N0, M0. T1: Tumor confined to the bile duct histologically.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Locally Advanced Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Unresectable Bile Duct Carcinoma

Bile duct carcinoma that is not amenable to surgical resection.


Stage IIIB Distal Bile Duct Cancer AJCC v8

Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage IVB Hilar Cholangiocarcinoma AJCC v7

Stage IVB includes: (Any T, N2, M0); (Any T, Any N, M1).  N2: MetastasIs to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis. (from AJCC 7th Ed.)


Intrahepatic cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma

A carcinoma that arises from the extrahepatic bile ducts and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component.  At least 30 percent of either component should be present for the diagnosis to be made.


Unresectable Hilar Cholangiocarcinoma

Hilar cholangiocarcinoma that is not amenable to surgical resection.


Stage III Hilar Cholangiocarcinoma AJCC v8

Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); IIIC: (Any T, N1, M0). T3: Tumor invading unilateral branches of the portal vein or hepatic artery. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Intrahepatic Cholangiocarcinoma by AJCC v7 Stage

A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.


Stage IIIA Intrahepatic Cholangiocarcinoma AJCC v8

Stage IIIA includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIA Distal Bile Duct Cancer AJCC v8

Stage IIA includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage II Intrahepatic Cholangiocarcinoma AJCC v7

Stage II includes: T2, N0, M0.  T2: Solitary tumor with vascular invasion or multiple tumors, with or without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Refractory Distal Bile Duct Adenocarcinoma

Distal bile duct adenocarcinoma that is resistant to treatment.


Metastatic Distal Bile Duct Carcinoma

A distal bile duct carcinoma that has spread from its original site of growth to other anatomic sites.


Extrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

A papillary neoplasm that arises from the epithelium of the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an adenocarcinoma.


Intrahepatic cholangiocarcinoma that is amenable to surgical resection.


Stage IIA Distal Bile Duct Cancer AJCC v7

Stage IIA includes: T3, N0, M0.  T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Cholangiocarcinoma recurrent

The reemergence of cholangiocarcinoma after a period of remission.


Small Duct Intrahepatic Cholangiocarcinoma

An intrahepatic cholangiocarcinoma that arises from the small interlobular bile ducts.


Stage 0 Intrahepatic Cholangiocarcinoma AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (intraductal tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Distal Bile Duct Cancer by AJCC v7 Stage

A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 7th edition.


Intrahepatic cholangiocarcinoma that is resistant to treatment.


Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type

An unusual, well differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei.


Intrahepatic cholangiocarcinoma that is not amenable to surgical removal.


Stage II Hilar Cholangiocarcinoma AJCC v7

Stage II includes: T2a-b, N0, M0.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage III Distal Bile Duct Cancer AJCC v7

Stage III includes: T4, Any N, M0. T4: Tumor involves the celiac axis or the superior mesenteric artery.  M0: No distant metastasis. (from AJCC 7th Ed.)


Locally Advanced Cholangiocarcinoma

Cholangiocarcinoma that has spread to nearby tissues or lymph nodes.


Stage I Intrahepatic Cholangiocarcinoma AJCC v8

Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0). T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Unresectable Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that is not amenable to surgical removal.


Stage IIIB Hilar Cholangiocarcinoma AJCC v8

Stage IIIB includes: T4, N0, M0. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Resectable Extrahepatic Bile Duct Adenocarcinoma

Extrahepatic bile duct adenocarcinoma that is amenable to surgical resection.


Stage IIIA Hilar Cholangiocarcinoma AJCC v7

Stage IIIA includes: T3, N0, M0. T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Intrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

A papillary neoplasm that arises from the epithelium of the intrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an intrahepatic cholangiocarcinoma.


Stage I Intrahepatic Cholangiocarcinoma AJCC v7

Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage III Distal Bile Duct Cancer AJCC v8

Stage III includes: IIIA: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); IIIB: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Bile duct adenocarcinoma resectable

Bile duct adenocarcinoma that is amenable to surgical resection.


Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma

A mucinous cystic neoplasm that arises from the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


Stage 0 Distal Bile Duct Cancer AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Distal Bile Duct Cancer AJCC v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Refractory Cholangiocarcinoma

Cholangiocarcinoma that is resistant to treatment.


large cell neuroendocrine carcinoma of extrahepatic bile duct

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


positive regulation of metanephric cap mesenchymal cell proliferation

Any process that increases the frequency, rate, or extent of metanephric cap mesenchymal cell proliferation. Metanephric cap mesenchymal cell proliferation is the multiplication or reproduction of metanephric cap mesenchymal cells, resulting in the expansion of the cell population. A metanephric cap mesenchymal cell is a mesenchymal cell that has condensed with other mesenchymal cells surrounding the ureteric bud tip.


lumbar nerve

The lumbar nerves are the five spinal nerves emerging from the lumbar vertebrae. They are divided into posterior and anterior divisions.


statocyst

A balance sensory receptor present in some aquatic invertebrates[WP].


choroid spindle cell melanoma

A spindle cell melanoma that involves the optic choroid.


choroid epithelioid cell melanoma

A epithelioid cell melanoma that involves the optic choroid.


choroid necrotic melanoma

A choroid melanoma characterized by the presence of tumor cell necrosis.


choroid mixed cell melanoma

A mixed cell uveal melanoma that involves the optic choroid.


intermediate cell type choroid melanoma

Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


fumaric aciduria

Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.


vein of appendix

A vein that is part of a vermiform appendix.


Ankle Injuries

Trauma to the ankle joint.


hyomandibula-metapterygoid joint

Joint that articulates the hyomandibula bone and metapterygoid bone.


vertebral artery insufficiency

A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.


2-oxoglutarate oxygenase/decarboxylase (ethylene-forming) activity

Catalysis of the reaction: 2-oxoglutarate(2-) + O2 + 2 H+ <=> ethene + 3 carbon dioxide + H2O.


negative regulation of penicillin catabolic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways leading to the breakdown of any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


negative regulation of fumonisin biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of fumonisin biosynthetic process.


regulation of initiation of acetate catabolic process by acetate

Any process that modulates the activation, by acetate, of the chemical reactions and pathways resulting in the breakdown of acetate.


negative regulation of tetrapyrrole biosynthetic process from glutamate

Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole biosynthetic process from glutamate.


positive regulation of androst-4-ene-3,17-dione biosynthetic process

Any process that activates or increases the frequency, rate or extent of androst-4-ene-3,17-dione biosynthetic process.


negative regulation of tensidol A biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of tensidol A biosynthetic process.


regulation of polyketide biosynthetic process

Any process that modulates the frequency, rate or extent of polyketide biosynthetic process.


regulation of arginine catabolic process

Any process that modulates the frequency, rate or extent of arginine catabolic process.


regulation of proline biosynthetic process

Any process that modulates the frequency, rate or extent of proline biosynthetic process.


negative regulation of retinoic acid biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of retinoic acid biosynthetic process.


negative regulation of androst-4-ene-3,17-dione biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of androst-4-ene-3,17-dione biosynthetic process.


positive regulation of ecdysteroid biosynthetic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of ecdysteroids.


positive regulation of leucine biosynthetic process

Any process that activates or increases the frequency, rate or extent of leucine biosynthetic process.


negative regulation of xanthone-containing compound biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of xanthone-containing compound biosynthetic process.


negative regulation of gibberellin biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of gibberellins.


negative regulation of palmitic acid catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of a palmitic acid catabolic process.


positive regulation of palmitic acid catabolic process

Any process that activates or increases the frequency, rate or extent of a palmitic acid catabolic process.


regulation of asperthecin biosynthetic process

Any process that modulates the frequency, rate or extent of asperthecin biosynthetic process.


negative regulation of butyryl-CoA biosynthetic process from acetyl-CoA

Any process that stops, prevents or reduces the frequency, rate or extent of butyryl-CoA biosynthetic process from acetyl-CoA.


regulation of butyryl-CoA biosynthetic process from acetyl-CoA

Any process that modulates the frequency, rate or extent of butyryl-CoA biosynthetic process from acetyl-CoA.


regulation of F-9775A biosynthetic process

Any process that modulates the frequency, rate or extent of F-9775A biosynthetic process.


regulation of ferulate catabolic process

Any process that modulates the frequency, rate or extent of ferulate catabolic process.


negative regulation of leucine biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of leucine biosynthetic process.


regulation of naphtho-gamma-pyrone biosynthetic process

Any process that modulates the frequency, rate or extent of naphtho-gamma-pyrone biosynthetic process.


regulation of helvolic acid biosynthetic process

Any process that modulates the frequency, rate or extent of helvolic acid biosynthetic process.


regulation of butyryl-CoA catabolic process to butyrate

Any process that modulates the frequency, rate or extent of butyryl-CoA catabolic process to butyrate.


positive regulation of amino acid biosynthetic process

Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process.


regulation of gamma-aminobutyric acid catabolic process

Any process that modulates the frequency, rate or extent of gamma-aminobutyric acid catabolic process.


regulation of gerfelin biosynthetic process

Any process that modulates the frequency, rate or extent of gerfelin biosynthetic process.


regulation of arginine biosynthetic process via ornithine

Any process that modulates the frequency, rate or extent of arginine biosynthetic process via ornithine.


negative regulation of L-ascorbic acid biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of L-ascorbic acid biosynthetic process.


regulation of palmitic acid catabolic process

Any process that modulates the frequency, rate or extent of a palmitic acid catabolic process.


regulation of asperfuranone biosynthetic process

Any process that modulates the frequency, rate or extent of asperfuranone biosynthetic process.


regulation of progesterone biosynthetic process

Any process that modulates the frequency, rate or extent of progesterone biosynthetic process.


negative regulation of isopentenyl diphosphate biosynthetic process, methylerythritol 4-phosphate pathway

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of isopentenyl diphosphate produced via the methylerythritol (MEP) pathway (mevalonate-independent).


negative regulation of abscisic acid biosynthetic process

Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of abscisic acid.