dilated cardiomyopathy 1BB

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


familial restrictive cardiomyopathy

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

description: An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.


familial dilated cardiomyopathy

description: A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.


fatal infantile encephalocardiomyopathy

description: Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.


Noonan syndrome 9

description: Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.


name: multiple acyl-CoA dehydrogenase deficiency, severe neonatal type


hypertrophic cardiomyopathy 8

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.


extrinsic cardiomyopathy

description: A cardiomyopathy that is not due to abnormalities in heart muscle cells.


cardiomyopathy, familial restrictive, 3

description: Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


dilated cardiomyopathy 3B

description: Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.


rheumatic myocarditis

description: Inflammation of the myocardium in acute rheumatic heart disease.


Keshan disease

description: A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.


Noonan syndrome 10

description: Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.


cardiofaciocutaneous syndrome

description: Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.


Beckwith-Wiedemann syndrome

description: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.


name: autosomal dominant Emery-Dreifuss muscular dystrophy

description: Autosomal dominant form of Emery-Dreifuss muscular dystrophy.


Kearns-Sayre syndrome

description: Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.


name: arrhythmogenic right ventricular dysplasia 1

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.


name: Noonan syndrome-like disorder with loose anagen hair 1

description: An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 gene, encoding leucine-rich repeat protein SHOC-2. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


dilated cardiomyopathy 1HH

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.


name: PGM1-congenital disorder of glycosylation


primary systemic amyloidosis

description: Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.


dilated cardiomyopathy 1G

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


name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


name: Beckwith-Wiedemann syndrome due to NSD1 mutation


name: Emery-Dreifuss muscular dystrophy 6, X-linked


name: hypereosinophilia of undetermined significance

description: Long-lasting, unexplained and asymptomatic blood hypereosinophilia.


name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion


glutaric acidemia IIa

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.


name: Noonan syndrome-like disorder with loose anagen hair 2

description: An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


dilated cardiomyopathy 1Q

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.


name: disseminated eosinophilic collagen disease


hypertrophic cardiomyopathy 17

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.


name: arrhythmogenic right ventricular dysplasia 10

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


dilated cardiomyopathy 1O

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.


name: arrhythmogenic right ventricular cardiomyopathy

description: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.


glycogen storage disease II

description: Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.


name: Noonan syndrome and Noonan-related syndrome


hypertrophic cardiomyopathy 20

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.


dilated cardiomyopathy 1V

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.


dilated cardiomyopathy 1B

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.


Barth syndrome

description: Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.


left ventricular noncompaction 10

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.


cardiofaciocutaneous syndrome 2

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.


name: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

description: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.


hypertrophic cardiomyopathy 2

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


dilated cardiomyopathy 1W

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


name: lethal congenital glycogen storage disease of heart

description: Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.


acute myocarditis

description: The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.


autoimmune myocarditis

description: 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.


name: early-onset myopathy with fatal cardiomyopathy


name: hypertrophic cardiomyopathy due to intensive athletic training


name: cardiomyopathy, familial hypertrophic, 30, atrial


Noonan syndrome 3

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


name: Emery-Dreifuss muscular dystrophy 4, autosomal dominant

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


name: autosomal recessive limb-girdle muscular dystrophy type 2F

description: 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

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


hypertrophic cardiomyopathy 25

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


name: autosomal recessive limb-girdle muscular dystrophy type 2C

description: 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

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


name: familial isolated arrhythmogenic ventricular dysplasia, left dominant form


cirrhotic cardiomyopathy

description: 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.


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

description: 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

description: 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.


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


dilated cardiomyopathy 1II

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


Noonan syndrome 2

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


Naxos disease

description: 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

description: 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.


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

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


name: autosomal recessive limb-girdle muscular dystrophy type 2E

description: 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.


name: arrhythmogenic right ventricular dysplasia 4

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


name: multiple acyl-CoA dehydrogenase deficiency, mild type


name: autosomal recessive limb-girdle muscular dystrophy type 2W

description: 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.


name: cardiomyopathy, familial hypertrophic 27

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


autoimmune cardiomyopathy

description: An autoimmune form of cardiomyopathy.


dilated cardiomyopathy 1K

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


dilated cardiomyopathy 1Y

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


hypertrophic cardiomyopathy 9

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


cardiofaciocutaneous syndrome 4

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


name: Emery-Dreifuss muscular dystrophy 1, X-linked

description: Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin.


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


name: familial isolated arrhythmogenic right ventricular dysplasia

description: 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

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


name: congenital-onset Steinert myotonic dystrophy


cardiomyopathy, dilated, 2D

description: 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.


name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive

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


name: catecholaminergic polymorphic ventricular tachycardia 1

description: 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

description: 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.


name: Noonan syndrome-like disorder with loose anagen hair

description: 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

description: Tropical endomyocardial fibrosis is a restrictive cardiopathy, occurring 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.


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

description: 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

description: 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.


benign neoplasm of spinal cord

description: A benign neoplasm that involves the spinal cord.


Sacral Chordoma

description: A chordoma that arises from the sacral area.


name: sacral spinal canal and spinal cord meningioma

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


Lumbar Spine Neoplasm

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


spinal cord lymphoma

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


childhood spinal cord tumor

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


spinal chordoma

description: 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.


name: intradural extramedullary spinal canal neoplasm

description: 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.


name: thoracic spinal canal and spinal cord meningioma

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


name: lumbar spinal canal and spinal cord meningioma

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


spinal cord sarcoma

description: A sarcoma that arises from the spinal cord.


intraspinal meningioma

description: A meningioma that arises from the spinal meninges.


epidural spinal canal neoplasm

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


Cervical Spine Neoplasm

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


name: Recurrent Childhood Spinal Cord Neoplasm

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


Lumbosacral Spine Neoplasm

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


epidural spinal canal angiolipoma

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


cauda equina neuroendocrine tumor

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


name: Refractory Childhood Spinal Cord Neoplasm

description: Spinal cord neoplasm in childhood which is resistant to treatment.


spinal multifocal clear cell meningioma

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


name: multiple spinal canal and spinal cord meningioma

description: Multiple meningiomas that arises from the spinal meninges.


Spinal Cord Pilocytic Astrocytoma

description: Pilocytic astrocytoma that arises from the spinal cord.


Drop Metastasis in the Spinal Cord

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


name: metastatic malignant neoplasm in the spinal cord

description: 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

description: A melanoma (disease) that involves the spinal cord.


spinal cord cancer

description: A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.


name: Anaplastic (Malignant) Intraspinal Meningioma

description: An anaplastic (malignant) meningioma involving the spinal meninges.


conus medullaris neoplasm

description: A neoplasm (disease) that involves the conus medullaris.


Sacral Spine Neoplasm

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


Recurrent Adult Spinal Cord Neoplasm

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


Refractory Adult Spinal Cord Neoplasm

description: Spinal cord neoplasm in adulthood which is resistant to treatment.


Refractory Spinal Cord Neoplasm

description: Spinal cord neoplasm resistant to treatment.


lumbosacral lipoma

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


Childhood Spinal Cord Ependymoma

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


epidural spinal canal meningioma

description: A meningioma that arises in the epidural spinal canal space.


Thoracic Chordoma

description: A chordoma that arises from the thoracic spine.


cauda equina neoplasm

description: A neoplasm involving a cauda equina.


Thoracic Spine Neoplasm

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


Intraspinal Neoplasm

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


name: cervical spinal canal and spinal cord meningioma

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


spinal cord lipoma

description: 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

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


Spinal meningioma benign

description: A grade I, slowly growing meningioma that arises from the spinal meninges.


Stage IB Fallopian Tube Cancer AJCC v8

description: 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.)


epididymal adenomatoid tumor

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


adenomatoid tumor

description: 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

description: 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

description: 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

description: 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.


name: immunoglobulin heavy constant gamma 4 N-glycosylated 35 (human)

description: An immunoglobulin heavy constant gamma 4 (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P01861-2, in which the glycan composition is represented by GlyTouCan:G88725PI. Example: UniProtKB:P01861-2, Asn-177, MOD:00160~GNO:G88725PI.


Grade 4 Liver Hemorrhage, CTCAE

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


name: Bladder Non-Invasive Papillary Urothelial Carcinoma, High Grade

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


name: Stage 0a Renal Pelvis and Ureter Cancer AJCC v7

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


name: Bladder Urothelial Proliferation of Uncertain Malignant Potential

description: 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

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


name: Stage 0 Renal Pelvis and Ureter Cancer AJCC v7

description: 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.)


name: Bladder Non-Invasive Urothelial Neoplasm

description: A non-invasive neoplasm that arises from the urothelial lining of the bladder.


Stage 0is Renal Pelvis Cancer AJCC v8

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


name: Non-invasive papillary urothelial carcinoma, high-grade

description: A non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract.


Stage 0is Bladder Cancer AJCC v8

description: 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.)


name: Stage 0a Renal Pelvis and Ureter Cancer AJCC v8

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


name: Stage 0is Renal Pelvis and Ureter Cancer AJCC v8


name: Stage 0is Renal Pelvis and Ureter Cancer AJCC v7

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


name: Non-invasive papillary urothelial carcinoma, low-grade

description: A non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. This type of carcinoma recurs frequently, may invade the urinary tract wall, and has a low risk of progression.


bladder flat intraepithelial lesion

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


name: Recurrent Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

description: The reemergence of bladder non-invasive papillary urothelial carcinoma, low grade, after a period of remission.


name: Early Stage Bladder Urothelial Carcinoma

description: Bladder urothelial carcinoma confined to the lining of the bladder.


name: Papillary Urothelial Neoplasm of Low Malignant Potential

description: A papillary neoplasm of the urothelium. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.


name: Non-invasive papillary urothelial carcinoma of bladder

description: 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)


name: Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

description: 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.


name: Grade 2 Trachea Obstruction and Stenosis, CTCAE


anterior cranial fossa meningioma

description: A meningioma that affects the anterior cranial fossa.


olfactory groove meningioma

description: A meningioma that affects the olfactory sulcus.


cerebral falx meningioma

description: A meningioma that affects the falx cerebri.


cavernous sinus meningioma

description: A meningioma that affects the cavernous sinus.


name: Myeloid/lymphoid neoplasm with FLT3 rearrangement

description: Hematologic neoplasms characterized by the rearrangement of the FLT3 gene, most often resulting in the formation of t(12;13)(p13.2;q12.2)/ETV6-FLT3 fusion transcripts. Patients usually present with T-ALL or myeloid sarcoma.


cortisone reductase deficiency 2

description: 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.


name: angiopoietin-1 receptor isoform h2 (human)

description: An angiopoietin-1 receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q02763-2.


name: 1alpha,25-dihydroxy-26,27-dimethyl-22-oxavitamin D3 / 1alpha,25-dihydroxy-26,27-dimethyl-22-oxacholecalciferol


benign myoepithelioma of salivary gland

description: 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

description: Autosomal dominant form of aorta coarctation.


Pneumocystis infectious disease

description: Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.


Malposition of heart and cardiac apex

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


fibromatosis, gingival, 1

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


lipoid proteinosis

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


name: serine/threonine-protein kinase receptor R3 sequence variant F425del (human)

description: A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-423, 425-503.


Scrotal Sebaceous Cyst

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


Grade 1 Gastric Stenosis, CTCAE

description: Asymptomatic; clinical or diagnostic observations only; intervention not indicated


Intratubular malignant germ cells

description: 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.


name: Testicular Cancer by AJCC v6 and v7 Stage

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


name: Stage IB Testicular Cancer AJCC v6 and v7

description: 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.)


name: Stage IIB Testicular Cancer AJCC v6 and v7

description: 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.)


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

description: 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.)


name: Stage IA Testicular Cancer AJCC v6 and v7

description: 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.)


name: Stage IIIB Testicular Cancer AJCC v6 and v7

description: 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.)


name: Stage IIA Testicular Cancer AJCC v6 and v7

description: 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

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


name: Stage IIIC Testicular Cancer AJCC v6 and v7

description: 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.)


name: Testicular germ cell tumor mixed stage III

description: 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.)


name: Stage II Testicular Seminoma AJCC v6 and v7

description: 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.)


name: Stage IIC Testicular Cancer AJCC v6 and v7

description: 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.)


name: Stage III Testicular Cancer AJCC v6 and v7


name: Stage III Testicular Seminoma AJCC v6 and v7


name: Stage 0 Testicular Cancer AJCC v6 and v7

description: 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.)


name: Stage I Testicular Cancer AJCC v6 and v7


name: Stage IS Testicular Cancer AJCC v6 and v7

description: 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.)


Intratubular Embryonal Carcinoma

description: Intratubular germ cell neoplasia characterized by the filling of the seminiferous tubules by embryonal carcinoma cells. Central necrosis and calcifications are often present.


name: Testicular germ cell tumor mixed stage I


name: Stage II Testicular Cancer AJCC v6 and v7


name: Stage IIIA Testicular Cancer AJCC v6 and v7

description: 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.)


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


name: Testicular embryonal carcinoma stage III


name: Testicular germ cell tumor mixed stage II


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


myosin-IIIb isoform h2 (human)

A myosin-IIIb (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WXR4-2.


fucosidosis

description: 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.


Bone Hibernoma

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


Grade 1 Night Blindness, CTCAE

description: Symptomatic but not limiting ADL


name: ATP-binding cassette sub-family C member 2 sequence variant I1173F (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has a Phe residue at the position equivalent to Ile-1173 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Ile-1173, CHEBI:29997.


name: ATP-binding cassette sub-family C member 2 sequence variant R1150H (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has a His residue at the position equivalent to Arg-1150 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Arg-1150, CHEBI:29979.


name: ATP-binding cassette sub-family C member 2 phosphorylated 1 (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has been phosphorylated on the residue at the position equivalent to Thr-902 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Thr-902, MOD:00047.


name: ATP-binding cassette sub-family C member 2 cysteinylated 1 (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-544 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Cys-544, MOD:00765.


name: ATP-binding cassette sub-family C member 2 sequence variant R768W (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has a Trp residue at the position equivalent to Arg-768 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Arg-768, CHEBI:29954.


name: lanosterol 14-alpha demethylase isoform 1 (human)

description: A lanosterol 14-alpha demethylase isoform 1 that is encoded in the genome of human.


name: Inappropriate Sinus Tachycardia Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Inappropriate sinus tachycardia at rest with heart rate  greater than 100 bpm that cannot be explained by any identifiable cause, including anemia, hypoxia, hypotension, or fever that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: UDP-glucose 4-epimerase isoform h2 (human)

description: A UDP-glucose 4-epimerase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14376-2.


name: UDP-glucose 4-epimerase isoform h1 (human)

description: A UDP-glucose 4-epimerase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14376-1.


name: UDP-glucose 4-epimerase sequence variant V94M (human)

description: A UDP-glucose 4-epimerase (human) that has a Met residue at the position equivalent to Val-94 of the amino acid sequence represented by UniProtKB:Q14376-1. Example: UniProtKB:Q14376-1, Val-94, CHEBI:16044.


Deep Tendon Reflex

description: 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.


Atypical Lymph Node

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


serine/threonine-protein kinase PAK 6

A protein that is a translation product of the human PAK6 gene or a 1:1 ortholog thereof.


name: serine/threonine-protein kinase PAK 6 isoform 1 (human)

description: A serine/threonine-protein kinase PAK 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NQU5-1.


name: serine/threonine-protein kinase PAK 6 isoform h2 (human)

description: A serine/threonine-protein kinase PAK 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NQU5-2.


Recurrent Childhood Osteosarcoma

description: The reemergence of childhood osteosarcoma after a period of remission.


name: congenital or early infantile CACH syndrome


name: leukoencephalopathy with vanishing white matter

description: 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.


name: leukoencephalopathy with vanishing white matter 5


name: leukoencephalopathy with vanishing white matter 2


name: leukoencephalopathy, progressive, with ovarian failure


name: leukoencephalopathy with vanishing white matter 3


name: leukoencephalopathy with vanishing white matter 1

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


name: leukoencephalopathy with vanishing white matter 4


name: acid-sensing ion channel 1 isoform h1 (human)

description: An acid-sensing ion channel 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P78348-1.


transient congenital hypothyroidism

description: 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.


Grade 1 Stomach Pain, CTCAE

description: Mild pain


Stomach Pain, CTCAE 5.0

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


Grade 3 Stomach Pain, CTCAE

description: Severe pain; limiting self care ADL


Grade 2 Stomach Pain, CTCAE

description: Moderate pain; limiting instrumental ADL


bone dysplasia, lethal Holmgren type

description: 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.


migraine, familial hemiplegic, 1

description: An autosomal dominant subtype of familial hemiplegic migraine caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A.


name: Grade 3 Gallbladder Intra-Operative Injury, CTCAE


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.


straight-chain saturated fatty acid

Any saturated fatty acid lacking a side-chain.


Recurrent Dedifferentiated Chordoma

description: The reemergence of dedifferentiated chordoma after a period of remission.


Recurrent Chordoma

description: The reemergence of chordoma after a period of remission.


Locally Recurrent Chordoma

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


name: protein kinase C delta type phosphorylated 2 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Thr-507 of the amino acid sequence represented by UniProtKB:Q05655. UniProtKB:Q05655, Thr-507, MOD:00047.


protein kinase C delta type

A protein kinase C, delta-like that is a translation product of the human PRKCD gene or a 1:1 ortholog thereof.


name: protein kinase C delta type deaminated 1 (human)

description: A protein kinase C delta type (human) that has been deaminated on the residue at the position equivalent to Asn-407 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Asn-407, MOD:00684.


name: protein kinase C delta type phosphorylated 3 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Thr-507, and phosphoserine at positions 645 and 664 of the amino acid sequence represented by UniProtKB:Q05655. UniProtKB:Q05655, Thr-507, MOD:00047|Ser-645/Ser-664, MOD:00046.


name: protein kinase C delta type phosphorylated 5 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Ser-359 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Ser-359, MOD:00046.


name: protein kinase C delta type methylated 2 (human)

description: A protein kinase C delta type (human) that has been methylated on the residue at the position equivalent to Cys-415 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Cys-415, MOD:00660.


name: protein kinase C delta type phosphorylated 6 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Thr-85 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Thr-85, MOD:00047.


name: protein kinase C delta type isoform h2 (human)

description: A protein kinase C delta type (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q05655-2.


name: protein kinase C delta type phosphorylated 4 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Ser-645 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Ser-645, MOD:00046.


name: protein kinase C delta type phosphorylated 1 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Tyr-155 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Tyr-155, MOD:00048.


name: protein kinase C delta type methylated 1 (human)

description: A protein kinase C delta type (human) that has been methylated on the residue at the position equivalent to Cys-175 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Cys-175, MOD:00660.


name: protein kinase C delta type isoform 1 (human)

description: A protein kinase C delta type isoform 1 that is encoded in the genome of human.


name: guanylate cyclase soluble subunit alpha-1 phosphorylated 1 (human)

description: A guanylate cyclase soluble subunit alpha-1 (human) that has been phosphorylated on the residue at the position equivalent to Thr-285 of the amino acid sequence represented by UniProtKB:Q02108-1. Example: UniProtKB:Q02108-1, Thr-285, MOD:00047.


name: Stage IV Primary Peritoneal Cancer AJCC v8

description: 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.)


name: Recurrent Platinum-Resistant Primary Peritoneal High Grade Serous Adenocarcinoma

description: The reemergence of platinum-resistant primary peritoneal high-grade serous adenocarcinoma after a period of remission.


name: Refractory Primary Peritoneal Endometrioid Adenocarcinoma

description: Primary peritoneal endometrioid adenocarcinoma that is resistant to treatment.


name: Refractory Primary Peritoneal Clear Cell Adenocarcinoma

description: Primary peritoneal clear cell adenocarcinoma that is resistant to treatment.


name: Recurrent Primary Peritoneal Clear Cell Adenocarcinoma

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


name: Stage IIIB Primary Peritoneal Cancer AJCC v8

description: 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

description: 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

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


name: Refractory Primary Peritoneal Transitional Cell Carcinoma

description: Primary peritoneal transitional cell carcinoma that is resistant to treatment.


name: Refractory Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that is resistant to treatment.


Metastatic Primary Peritoneal Carcinoma

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


name: Stage III Primary Peritoneal Cancer AJCC v7

description: 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.)


name: Metastatic Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Stage IIIC Primary Peritoneal Cancer AJCC v7

description: 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.)


name: Recurrent Primary Peritoneal Adenocarcinoma

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


name: Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Refractory Primary Peritoneal Serous Adenocarcinoma

description: Primary peritoneal serous adenocarcinoma that is resistant to treatment.


name: Stage II Primary Peritoneal Cancer AJCC v8

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


name: Metastatic Primary Peritoneal Serous Adenocarcinoma

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


name: Stage IIA Primary Peritoneal Cancer AJCC v8

description: 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.)


name: Locally Advanced Unresectable Primary Peritoneal Carcinoma

description: 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.


name: Recurrent Primary Peritoneal Low Grade Serous Adenocarcinoma

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


name: Primary Peritoneal Transitional Cell Carcinoma

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


name: Platinum-Resistant Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that progresses between one and six months of completing platinum therapy.


name: Unresectable Primary Peritoneal Endometrioid Adenocarcinoma

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


name: Primary Peritoneal Undifferentiated Carcinoma

description: 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.


name: Unresectable Primary Peritoneal Serous Adenocarcinoma

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


name: Recurrent Primary Peritoneal Transitional Cell Carcinoma

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


name: Stage IIIB Primary Peritoneal Cancer AJCC v7

description: 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.)


name: Metastatic Platinum-Resistant Primary Peritoneal Carcinoma

description: A platinum-resistant primary peritoneal carcinoma that has spread from its original site of growth to another anatomic site.


name: Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Recurrent Primary Peritoneal Undifferentiated Carcinoma

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


Refractory Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that is resistant to treatment.


name: Unresectable Platinum-Resistant Primary Peritoneal Carcinoma

description: A platinum-resistant primary peritoneal carcinoma that is not amenable to surgical resection.


name: Recurrent Platinum-Sensitive Primary Peritoneal Carcinoma

description: The reemergence of platinum-sensitive primary peritoneal carcinoma after a period of remission.


name: Primary Peritoneal Cancer by AJCC v8 Stage

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


name: Primary Peritoneal Low Grade Serous Adenocarcinoma

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


name: Stage III Primary Peritoneal Cancer AJCC v8

description: 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.)


name: Primary Peritoneal Cancer by AJCC v7 Stage

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


name: Unresectable Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that is not amenable to surgical resection.


name: Platinum-Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that progresses during platinum therapy or within one month of completing platinum therapy.


name: Primary Peritoneal Endometrioid Adenocarcinoma

description: An exceedingly rare endometrioid adenocarcinoma arising from the peritoneum.


name: Recurrent Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Metastatic Primary Peritoneal Adenocarcinoma

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


Primary Peritoneal Adenocarcinoma

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


name: Stage IV Primary Peritoneal Cancer AJCC v7

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


name: Platinum-Refractory Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that progresses during platinum therapy or within one month of completing platinum therapy.


name: Unresectable Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that is not amenable to surgical resection.


name: Stage IVA Primary Peritoneal Cancer AJCC v8

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


name: Recurrent Primary Peritoneal Endometrioid Adenocarcinoma

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


Recurrent Primary Peritoneal Carcinoma

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


name: Recurrent Platinum-Resistant Primary Peritoneal Carcinoma

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


name: Refractory Primary Peritoneal Low Grade Serous Adenocarcinoma

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


name: Stage IIIA Primary Peritoneal Cancer AJCC v7

description: 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.)


name: Refractory Primary Peritoneal Undifferentiated Carcinoma

description: Primary peritoneal undifferentiated carcinoma that is resistant to treatment.


name: Locally Advanced Primary Peritoneal Carcinoma

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


name: Stage IIIC Primary Peritoneal Cancer AJCC v8

description: 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.)


name: Stage IIIA Primary Peritoneal Cancer AJCC v8

description: 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.)


name: Recurrent Primary Peritoneal Serous Adenocarcinoma

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


name: Stage IIB Primary Peritoneal Cancer AJCC v8

description: 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.)


name: Stage IVB Primary Peritoneal Cancer AJCC v8

description: 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.)


name: Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Platinum-Sensitive Primary Peritoneal Carcinoma

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


name: Platinum-Resistant Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that progresses between one and six months of completing platinum therapy.


Grade 4 Tricuspid Valve Disease, CTCAE

description: Life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty)


Tricuspid Valve Disease, CTCAE

description: A disorder characterized by a defect in tricuspid valve function or structure.


Grade 5 Tricuspid Valve Disease, CTCAE

description: Death


Grade 2 Tricuspid Valve Disease, CTCAE

description: Asymptomatic; moderate regurgitation or stenosis by imaging


Grade 3 Tricuspid Valve Disease, CTCAE

description: Symptomatic; severe regurgitation or stenosis; symptoms controlled with medical intervention


Grade 1 Tricuspid Valve Disease, CTCAE

description: Asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis


vascular cancer

description: A malignant neoplasm arising from the blood vessels.


great vessel cancer

description: A malignant neoplasm arising from the great vessels.


Malignant Inferior Vena Cava Neoplasm

description: A malignant neoplasm involving the inferior vena cava.


pulmonary artery choriocarcinoma

description: A rare choriocarcinoma that arises from a pulmonary artery.


Malignant Superior Vena Cava Neoplasm

description: A malignant neoplasm involving the superior vena cava.


superior vena cava leiomyosarcoma

description: 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

description: A neoplasm that arises from the great vessels and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


aortic malignant tumor

description: A cancer that involves the aorta.


name: autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


Metastatic Malignant Glomus Tumor

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


Locally Advanced Malignant Glomus Tumor

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


Unresectable Malignant Glomus Tumor

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


Refractory Malignant Glomus Tumor

description: A malignant glomus tumor that is resistant to treatment.


Scleral Disorder, CTCAE

description: A disorder characterized by involvement of the sclera of the eye.


Grade 3 Scleral Disorder, CTCAE

description: Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL


Grade 4 Scleral Disorder, CTCAE

description: Best corrected visual acuity of 20/200 or worse in the affected eye


Grade 1 Scleral Disorder, CTCAE

description: No change in vision from baseline


Grade 2 Scleral Disorder, CTCAE

description: Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline); limiting instrumental ADL


Stage III Fallopian Tube Cancer AJCC v6

description: 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.)


Grade 2 Anal Fissure, CTCAE

description: Symptomatic


Anal Fissure, CTCAE

description: A disorder characterized by a tear in the lining of the anus.


Grade 1 Anal Fissure, CTCAE

description: Asymptomatic


Grade 3 Anal Fissure, CTCAE

description: Invasive intervention indicated


name: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


Stage IA2 Lung Cancer AJCC v8

description: 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.)


name: ocular dysgenesis caused by defects in PAX6 regulation

description: Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.


name: multidrug and toxin extrusion protein 1 isoform h2 (human)

description: A multidrug and toxin extrusion protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96FL8-2.


name: Metastatic Malignant Neoplasm in the Male Reproductive System

description: The spread of a malignant neoplasm to the male reproductive system from an adjacent or distant anatomic site.


Secondary Prostate Urothelial Carcinoma

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


name: Metastatic malignant neoplasm to seminal vesicle

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


Metastatic malignant neoplasm to testis

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


name: Metastatic malignant neoplasm to epididymis

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


Metastatic malignant neoplasm to penis

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


name: Grade 4 Neck Infection NOS with Unknown Absolute Neutrophil Count, CTCAE


name: Grade 1 Peritoneal Cavity Intra-Operative Injury, CTCAE


name: tyrosine-protein phosphatase non-receptor type 1 methylated 2 (human)

description: A tyrosine-protein phosphatase non-receptor type 1 (human) that has been methylated on the residue at the position equivalent to Cys-121 of the amino acid sequence represented by UniProtKB:P18031. UniProtKB:P18031, Cys-121, MOD:00660.


name: tyrosine-protein phosphatase non-receptor type 1 phosphorylated 1 (human)

description: A tyrosine-protein phosphatase non-receptor type 1 (human) that has been phosphorylated at Tyr-66. UniProtKB:P18031, Tyr-66, MOD:00048.


name: tyrosine-protein phosphatase non-receptor type 1 methylated 1 (human)

description: A tyrosine-protein phosphatase non-receptor type 1 (human) that has been methylated on the residue at the position equivalent to Cys-426 of the amino acid sequence represented by UniProtKB:P18031. UniProtKB:P18031, Cys-426, MOD:00660.


description: A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.


name: Stage 0 Hilar Cholangiocarcinoma AJCC v8

description: 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.)


name: Locally Advanced Distal Bile Duct Carcinoma

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


name: Stage IVB Intrahepatic Cholangiocarcinoma AJCC v7

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


name: Stage IA Intrahepatic Cholangiocarcinoma AJCC v8

description: 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

description: Cholangiocarcinoma that is amenable to surgical resection.


Metastatic Bile Duct Carcinoma

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


name: Advanced Extrahepatic Bile Duct Carcinoma

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


name: Stage IVB Hilar Cholangiocarcinoma AJCC v8

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


name: Stage IB Distal Bile Duct Cancer AJCC v7

description: 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.)


name: Localized Extrahepatic Bile Duct Carcinoma

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


name: Stage IIIB Hilar Cholangiocarcinoma AJCC v7

description: 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.)


name: Hilar Cholangiocarcinoma by AJCC v7 Stage

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


Cholangiocarcinoma non-resectable

description: Cholangiocarcinoma that is not amenable to surgical resection.


name: Stage IVA Intrahepatic Cholangiocarcinoma AJCC v7

description: 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

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


name: Clear Cell Intrahepatic Cholangiocarcinoma

description: 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

description: 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

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


name: Stage IIIC Hilar Cholangiocarcinoma AJCC v8

description: 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.)


name: Unresectable Distal Bile Duct Adenocarcinoma

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


name: Recurrent Distal Bile Duct Adenocarcinoma

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


name: Extrahepatic Bile Duct Neuroendocrine Carcinoma

description: 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. It is classified as either small or large cell neuroendocrine carcinoma based on the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm.


name: Stage I Hilar Cholangiocarcinoma AJCC v7

description: 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.)


name: Locally Advanced Unresectable Cholangiocarcinoma

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


name: Stage IV Hilar Cholangiocarcinoma AJCC v8

description: 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

description: Extrahepatic bile duct carcinoma that is amenable to surgical removal.


Locally Advanced Bile Duct Carcinoma

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


Metastatic cholangiocarcinoma

description: A cholangiocarcinoma that has metastasized to other anatomic sites.


Advanced Bile Duct Carcinoma

description: 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.


name: Stage IVA Hilar Cholangiocarcinoma AJCC v7

description: 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.)


name: Locally Advanced Intrahepatic Cholangiocarcinoma

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


name: Metastatic Distal Bile Duct Adenocarcinoma

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


name: intestinal type adenocarcinoma of extrahepatic bile duct

description: 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

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


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v8

description: 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.)


name: Stage IV Distal Bile Duct Cancer AJCC v8

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


description: Intrahepatic cholangiocarcinoma that has metastasized to a limited number of sites.


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v7

description: 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.)


name: Stage IIIA Distal Bile Duct Cancer AJCC v8

description: 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

description: Bile duct carcinoma that is resistant to treatment.


name: Stage IIIB Intrahepatic Cholangiocarcinoma AJCC v8

description: 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.)


description: The reemergence of intrahepatic cholangiocarcinoma after a period of remission.


name: Recurrent Extrahepatic Bile Duct Carcinoma

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


name: Refractory Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that is resistant to treatment.


name: anaplastic carcinoma of extrahepatic bile duct

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


name: Hilar Cholangiocarcinoma by AJCC v8 Stage

description: 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.)


name: Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7

description: 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.)


name: Stage II Distal Bile Duct Cancer AJCC v8

description: 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.)


name: Stage IVA Hilar Cholangiocarcinoma AJCC v8

description: 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.)


name: Stage I Hilar Cholangiocarcinoma AJCC v8

description: 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.)


name: Stage II Hilar Cholangiocarcinoma AJCC v8

description: 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.)


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v8

description: 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.)


name: Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma

description: 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.


name: Intrahepatic Cholangiocarcinoma by AJCC v8 Stage

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


name: Stage IV Intrahepatic Cholangiocarcinoma AJCC v8

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


name: Stage IIB Distal Bile Duct Cancer AJCC v7

description: 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.)


name: Stage IIIA Hilar Cholangiocarcinoma AJCC v8

description: 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.)


name: Distal Bile Duct Cancer by AJCC v8 Stage

description: 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.)


name: Metastatic Extrahepatic Bile Duct Carcinoma

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


name: Extrahepatic Bile Duct Adenocarcinoma, Biliary Type

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


name: Stage IB Intrahepatic Cholangiocarcinoma AJCC v8

description: 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.)


name: carcinosarcoma of extrahepatic bile duct

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


name: Stage IV Distal Bile Duct Cancer AJCC v7

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


name: Stage IIB Distal Bile Duct Cancer AJCC v8

description: 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.)


name: Stage 0 Hilar Cholangiocarcinoma AJCC v7

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


name: Stage IA Distal Bile Duct Cancer AJCC v7

description: 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.)


name: Locally Advanced Extrahepatic Bile Duct Carcinoma

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


Unresectable Bile Duct Carcinoma

description: Bile duct carcinoma that is not amenable to surgical resection.


name: Stage IIIB Distal Bile Duct Cancer AJCC v8

description: 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.)


name: Stage IVB Hilar Cholangiocarcinoma AJCC v7

description: 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.)


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


name: Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma

description: 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

description: Hilar cholangiocarcinoma that is not amenable to surgical resection.


name: Stage III Hilar Cholangiocarcinoma AJCC v8

description: 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.)


name: Intrahepatic Cholangiocarcinoma by AJCC v7 Stage

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


name: Stage IIIA Intrahepatic Cholangiocarcinoma AJCC v8

description: 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.)


name: Stage IIA Distal Bile Duct Cancer AJCC v8

description: 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.)


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v7

description: 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.)


name: Refractory Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that is resistant to treatment.


Metastatic Distal Bile Duct Carcinoma

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