cardiomyopathy, familial restrictive, 3

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


dilated cardiomyopathy 3B

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

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


rheumatic myocarditis

Inflammation of the myocardium in acute rheumatic heart disease.


Keshan disease

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


Noonan syndrome 10

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


cardiofaciocutaneous syndrome

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

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


autosomal dominant Emery-Dreifuss muscular dystrophy

Autosomal dominant form of Emery-Dreifuss muscular dystrophy.


Kearns-Sayre syndrome

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.


arrhythmogenic right ventricular dysplasia 1

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


Noonan syndrome-like disorder with loose anagen hair 1

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

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


PGM1-congenital disorder of glycosylation


primary systemic amyloidosis

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

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


46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


Beckwith-Wiedemann syndrome due to NSD1 mutation


Emery-Dreifuss muscular dystrophy 6, X-linked


hypereosinophilia of undetermined significance

Long-lasting, unexplained and asymptomatic blood hypereosinophilia.


Beckwith-Wiedemann syndrome due to 11p15 microdeletion


glutaric acidemia IIa

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


Noonan syndrome-like disorder with loose anagen hair 2

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

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


disseminated eosinophilic collagen disease


hypertrophic cardiomyopathy 17

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


arrhythmogenic right ventricular dysplasia 10

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


dilated cardiomyopathy 1O

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


arrhythmogenic right ventricular cardiomyopathy

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

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.


Noonan syndrome and Noonan-related syndrome


hypertrophic cardiomyopathy 20

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


dilated cardiomyopathy 1V

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


dilated cardiomyopathy 1B

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


Barth syndrome

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

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


cardiofaciocutaneous syndrome 2

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


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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

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


dilated cardiomyopathy 1W

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


acute myocarditis

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

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.


early-onset myopathy with fatal cardiomyopathy


hypertrophic cardiomyopathy due to intensive athletic training


Noonan syndrome 3

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


Emery-Dreifuss muscular dystrophy 4, autosomal dominant

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


autosomal recessive limb-girdle muscular dystrophy type 2F

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


idiopathic cardiomyopathy

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


muscular dystrophy, pseudohypertrophic, with Internalized capillaries


hypertrophic cardiomyopathy 25

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


autosomal recessive limb-girdle muscular dystrophy type 2C

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


hypertrophic cardiomyopathy 6

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


familial isolated arrhythmogenic ventricular dysplasia, left dominant form


cirrhotic cardiomyopathy

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


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

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


cardiomyopathy, dilated, 2G

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


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


dilated cardiomyopathy 1II

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


Noonan syndrome 2

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


Naxos disease

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


46,XY sex reversal 1

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


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

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


autosomal recessive limb-girdle muscular dystrophy type 2E

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


arrhythmogenic right ventricular dysplasia 4

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


multiple acyl-CoA dehydrogenase deficiency, mild type


autosomal recessive limb-girdle muscular dystrophy type 2W

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


cardiomyopathy, familial hypertrophic 27

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


autoimmune cardiomyopathy

An autoimmune form of cardiomyopathy.


dilated cardiomyopathy 1K

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


dilated cardiomyopathy 1Y

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


hypertrophic cardiomyopathy 9

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


cardiofaciocutaneous syndrome 4

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


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


familial isolated arrhythmogenic right ventricular dysplasia

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


dilated cardiomyopathy 2B

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


congenital-onset Steinert myotonic dystrophy


cardiomyopathy, dilated, 2D

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


Emery-Dreifuss muscular dystrophy 3, autosomal recessive

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


catecholaminergic polymorphic ventricular tachycardia 1

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


dilated cardiomyopathy 1A

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


Noonan syndrome-like disorder with loose anagen hair

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


tropical endomyocardial fibrosis

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


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

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


mixed cerebral palsy

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


Stage IB Fallopian Tube Cancer AJCC v8

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


benign neoplasm of spinal cord

A benign neoplasm that involves the spinal cord.


Sacral Chordoma

A chordoma that arises from the sacral area.


sacral spinal canal and spinal cord meningioma

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


Lumbar Spine Neoplasm

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


spinal cord lymphoma

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


childhood spinal cord tumor

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


spinal chordoma

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


intradural extramedullary spinal canal neoplasm

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


thoracic spinal canal and spinal cord meningioma

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


lumbar spinal canal and spinal cord meningioma

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


spinal cord sarcoma

A sarcoma that arises from the spinal cord.


intraspinal meningioma

A meningioma that arises from the spinal meninges.


epidural spinal canal neoplasm

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


Cervical Spine Neoplasm

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


Recurrent Childhood Spinal Cord Neoplasm

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


Lumbosacral Spine Neoplasm

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


epidural spinal canal angiolipoma

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


cauda equina neuroendocrine tumor

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


Refractory Childhood Spinal Cord Neoplasm

Spinal cord neoplasm in childhood which is resistant to treatment.


spinal multifocal clear cell meningioma

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


multiple spinal canal and spinal cord meningioma

Multiple meningiomas that arises from the spinal meninges.


Drop Metastasis in the Spinal Cord

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


metastatic malignant neoplasm in the spinal cord

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


spinal cord melanoma

A melanoma (disease) that involves the spinal cord.


spinal cord cancer

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


Anaplastic (Malignant) Intraspinal Meningioma

An anaplastic (malignant) meningioma involving the spinal meninges.


conus medullaris neoplasm

A neoplasm (disease) that involves the conus medullaris.


Sacral Spine Neoplasm

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


Recurrent Adult Spinal Cord Neoplasm

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


Refractory Adult Spinal Cord Neoplasm

Spinal cord neoplasm in adulthood which is resistant to treatment.


Refractory Spinal Cord Neoplasm

Spinal cord neoplasm resistant to treatment.


lumbosacral lipoma

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


Childhood Spinal Cord Ependymoma

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


epidural spinal canal meningioma

A meningioma that arises in the epidural spinal canal space.


Thoracic Chordoma

A chordoma that arises from the thoracic spine.


cauda equina neoplasm

A neoplasm involving a cauda equina.


Thoracic Spine Neoplasm

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


Intraspinal Neoplasm

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


cervical spinal canal and spinal cord meningioma

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


spinal cord lipoma

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


Recurrent Spinal Cord Neoplasm

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


epididymal adenomatoid tumor

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


adenomatoid tumor

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


pleural adenomatoid tumor

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


uterine corpus adenomatoid tumor

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


fallopian tube adenomatoid tumor

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


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

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:P01861-1, in which the glycan composition is represented by GlyTouCan:G88725PI. Example: UniProtKB:P01861-1, Asn-177, MOD:00160~GNO:G88725PI.


Grade 4 Liver Hemorrhage, CTCAE

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


Bladder Non-Invasive Papillary Urothelial Carcinoma, High Grade

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


Stage 0a Renal Pelvis and Ureter Cancer AJCC v7

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


Bladder Urothelial Proliferation of Uncertain Malignant Potential

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


Stage 0a Bladder Cancer AJCC v8

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


bladder flat intraepithelial lesion

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


Stage 0 Renal Pelvis and Ureter Cancer AJCC v7

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


Non-invasive papillary urothelial carcinoma of bladder

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


Bladder Non-Invasive Urothelial Neoplasm

A non-invasive bladder neoplasm affecting the urothelium.


Stage 0is Renal Pelvis Cancer AJCC v8

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


Stage 0is Bladder Cancer AJCC v8

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


Stage 0a Renal Pelvis and Ureter Cancer AJCC v8

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


Stage 0is Renal Pelvis and Ureter Cancer AJCC v8


Stage 0is Renal Pelvis and Ureter Cancer AJCC v7

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


Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

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


Grade 2 Trachea Obstruction and Stenosis, CTCAE


anterior cranial fossa meningioma

A meningioma that affects the anterior cranial fossa.


olfactory groove meningioma

A meningioma that affects the olfactory sulcus.


cerebral falx meningioma

A meningioma that affects the falx cerebri.


cavernous sinus meningioma

A meningioma that affects the cavernous sinus.


cortisone reductase deficiency 2

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


angiopoietin-1 receptor isoform h2 (human)

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.


benign myoepithelioma of salivary gland

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


autosomal dominant coarctation of aorta

Autosomal dominant form of aorta coarctation.


Pneumocystis infectious disease

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.


fibromatosis, gingival, 1

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


Malposition of heart and cardiac apex

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


lipoid proteinosis

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


Buttock Pain

Painful sensation in the buttocks.


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

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

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

Asymptomatic; clinical or diagnostic observations only; intervention not indicated


Intratubular malignant germ cells

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


Testicular Cancer by AJCC v6 and v7 Stage

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


Stage IB Testicular Cancer AJCC v6 and v7

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


Stage IIB Testicular Cancer AJCC v6 and v7

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


Testicular choriocarcinoma stage II

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


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

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


Stage IA Testicular Cancer AJCC v6 and v7

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


Stage IIIB Testicular Cancer AJCC v6 and v7

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


Stage IIA Testicular Cancer AJCC v6 and v7

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


Intratubular Seminoma

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


Stage IIIC Testicular Cancer AJCC v6 and v7

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


Testicular germ cell tumor mixed stage III

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


Stage II Testicular Seminoma AJCC v6 and v7


Stage IIC Testicular Cancer AJCC v6 and v7

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


Stage III Testicular Cancer AJCC v6 and v7


Stage III Testicular Seminoma AJCC v6 and v7


Stage 0 Testicular Cancer AJCC v6 and v7

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


Stage I Testicular Cancer AJCC v6 and v7


Stage IS Testicular Cancer AJCC v6 and v7

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


Testicular germ cell tumor mixed stage I


Stage II Testicular Cancer AJCC v6 and v7


Stage IIIA Testicular Cancer AJCC v6 and v7

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


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


Testicular embryonal carcinoma stage III


Testicular germ cell tumor mixed stage II


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


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

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

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


Grade 1 Night Blindness, CTCAE

Symptomatic but not limiting ADL


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

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


lanosterol 14-alpha demethylase isoform 1 (human)

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


UDP-glucose 4-epimerase isoform h2 (human)

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.


UDP-glucose 4-epimerase isoform h1 (human)

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.


Deep Tendon Reflex

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


Atypical Lymph Node

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.


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

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.


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

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

The reemergence of childhood osteosarcoma after a period of remission.


congenital or early infantile CACH syndrome


leukoencephalopathy, progressive, with ovarian failure


Cree leukoencephalopathy

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


acid-sensing ion channel 1 isoform h1 (human)

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

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

Mild pain


Stomach Pain, CTCAE 5.0

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


Grade 3 Stomach Pain, CTCAE

Severe pain; limiting self care ADL


Grade 2 Stomach Pain, CTCAE

Moderate pain; limiting instrumental ADL


bone dysplasia, lethal Holmgren type

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


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

The reemergence of dedifferentiated chordoma after a period of remission.


Recurrent Chordoma

The reemergence of chordoma after a period of remission.


Locally Recurrent Chordoma

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


protein kinase C delta type phosphorylated 2 (human)

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.


protein kinase C delta type phosphorylated 3 (human)

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.


protein kinase C delta type isoform 1 (human)

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


protein kinase C delta type isoform h2 (human)

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.


protein kinase C delta type phosphorylated 1 (human)

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.


Stage IV Primary Peritoneal Cancer AJCC v8

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


Refractory Primary Peritoneal Endometrioid Adenocarcinoma

Primary peritoneal endometrioid adenocarcinoma that is resistant to treatment.


Refractory Primary Peritoneal Clear Cell Adenocarcinoma

Primary peritoneal clear cell adenocarcinoma that is resistant to treatment.


Recurrent Primary Peritoneal Clear Cell Adenocarcinoma

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


Stage IIIB Primary Peritoneal Cancer AJCC v8

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


Advanced Primary Peritoneal Carcinoma

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


Clear cell adenocarcinoma of peritoneum

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


Refractory Primary Peritoneal Transitional Cell Carcinoma

Primary peritoneal transitional cell carcinoma that is resistant to treatment.


Refractory Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that is resistant to treatment.


Metastatic Primary Peritoneal Carcinoma

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


Stage III Primary Peritoneal Cancer AJCC v7

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


Metastatic Primary Peritoneal High Grade Serous Adenocarcinoma

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


Stage IIIC Primary Peritoneal Cancer AJCC v7

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


Recurrent Primary Peritoneal Adenocarcinoma

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


Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma

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


Refractory Primary Peritoneal Serous Adenocarcinoma

Primary peritoneal serous adenocarcinoma that is resistant to treatment.


Stage II Primary Peritoneal Cancer AJCC v8

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


Metastatic Primary Peritoneal Serous Adenocarcinoma

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


Stage IIA Primary Peritoneal Cancer AJCC v8

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


Locally Advanced Unresectable Primary Peritoneal Carcinoma

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


Recurrent Primary Peritoneal Low Grade Serous Adenocarcinoma

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


Primary Peritoneal Transitional Cell Carcinoma

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


Platinum-Resistant Primary Peritoneal Carcinoma

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


Unresectable Primary Peritoneal Endometrioid Adenocarcinoma

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


Primary Peritoneal Undifferentiated Carcinoma

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


Unresectable Primary Peritoneal Serous Adenocarcinoma

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


Recurrent Primary Peritoneal Transitional Cell Carcinoma

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


Stage IIIB Primary Peritoneal Cancer AJCC v7

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


Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

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


Recurrent Primary Peritoneal Undifferentiated Carcinoma

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


Refractory Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that is resistant to treatment.


Primary Peritoneal Cancer by AJCC v8 Stage

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


Primary Peritoneal Low Grade Serous Adenocarcinoma

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


Stage III Primary Peritoneal Cancer AJCC v8

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


Primary Peritoneal Cancer by AJCC v7 Stage

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


Unresectable Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that is not amenable to surgical resection.


Primary Peritoneal Endometrioid Adenocarcinoma

An exceedingly rare endometrioid adenocarcinoma arising from the peritoneum.


Recurrent Primary Peritoneal High Grade Serous Adenocarcinoma

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


Metastatic Primary Peritoneal Adenocarcinoma

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


Primary Peritoneal Adenocarcinoma

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


Stage IV Primary Peritoneal Cancer AJCC v7

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


Platinum-Refractory Primary Peritoneal Carcinoma

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


Unresectable Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that is not amenable to surgical resection.


Stage IVA Primary Peritoneal Cancer AJCC v8

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


Recurrent Primary Peritoneal Endometrioid Adenocarcinoma

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


Recurrent Primary Peritoneal Carcinoma

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


Recurrent Platinum-Resistant Primary Peritoneal Carcinoma

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


Refractory Primary Peritoneal Low Grade Serous Adenocarcinoma

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


Stage IIIA Primary Peritoneal Cancer AJCC v7

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


Refractory Primary Peritoneal Undifferentiated Carcinoma

Primary peritoneal undifferentiated carcinoma that is resistant to treatment.


Locally Advanced Primary Peritoneal Carcinoma

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


Stage IIIC Primary Peritoneal Cancer AJCC v8

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


Stage IIIA Primary Peritoneal Cancer AJCC v8

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


Recurrent Primary Peritoneal Serous Adenocarcinoma

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


Stage IIB Primary Peritoneal Cancer AJCC v8

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


Stage IVB Primary Peritoneal Cancer AJCC v8

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


Primary Peritoneal High Grade Serous Adenocarcinoma

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


Platinum-Sensitive Primary Peritoneal Carcinoma

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


Grade 4 Tricuspid Valve Disease, CTCAE

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


Tricuspid Valve Disease, CTCAE

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


Grade 5 Tricuspid Valve Disease, CTCAE

Death


Grade 2 Tricuspid Valve Disease, CTCAE

Asymptomatic; moderate regurgitation or stenosis by imaging


Grade 3 Tricuspid Valve Disease, CTCAE

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


Grade 1 Tricuspid Valve Disease, CTCAE

Asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis


vascular cancer

A malignant neoplasm arising from the blood vessels.


great vessel cancer

A malignant neoplasm arising from the great vessels.


Malignant Inferior Vena Cava Neoplasm

A malignant neoplasm involving the inferior vena cava.


pulmonary artery choriocarcinoma

A rare choriocarcinoma that arises from a pulmonary artery.


Malignant Superior Vena Cava Neoplasm

A malignant neoplasm involving the superior vena cava.


superior vena cava leiomyosarcoma

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


Benign neoplasm of great vessels

A benign neoplasm involving the great vessel.


aortic malignant tumor

A cancer that involves the aorta.


autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


Metastatic Malignant Glomus Tumor

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


Locally Advanced Malignant Glomus Tumor

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


Unresectable Malignant Glomus Tumor

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


Refractory Malignant Glomus Tumor

A malignant glomus tumor that is resistant to treatment.


Scleral Disorder, CTCAE

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


Grade 3 Scleral Disorder, CTCAE

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

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


Grade 1 Scleral Disorder, CTCAE

No change in vision from baseline


Grade 2 Scleral Disorder, CTCAE

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


FIGO Stage III Carcinoma of the Fallopian Tube

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


Grade 2 Anal Fissure, CTCAE

Symptomatic


Anal Fissure, CTCAE

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


Grade 1 Anal Fissure, CTCAE

Asymptomatic


Grade 3 Anal Fissure, CTCAE

Invasive intervention indicated


intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


Stage IA2 Lung Cancer AJCC v8

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


multidrug and toxin extrusion protein 1 isoform h2 (human)

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.


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


Grade 1 Peritoneal Cavity Intra-Operative Injury, CTCAE


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

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


A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.


Stage 0 Hilar Cholangiocarcinoma AJCC v8

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


Locally Advanced Distal Bile Duct Carcinoma

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


Stage IVB Intrahepatic Cholangiocarcinoma AJCC v7

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


Stage IA Intrahepatic Cholangiocarcinoma AJCC v8

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


Cholangiocarcinoma resectable

Cholangiocarcinoma that is amenable to surgical resection.


Metastatic Bile Duct Carcinoma

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


Advanced Extrahepatic Bile Duct Carcinoma

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


Stage IVB Hilar Cholangiocarcinoma AJCC v8

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


Stage IB Distal Bile Duct Cancer AJCC v7

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


Localized Extrahepatic Bile Duct Carcinoma

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


Stage IIIB Hilar Cholangiocarcinoma AJCC v7

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


Hilar Cholangiocarcinoma by AJCC v7 Stage

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


Cholangiocarcinoma non-resectable

Cholangiocarcinoma that is not amenable to surgical resection.


Stage IVA Intrahepatic Cholangiocarcinoma AJCC v7

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


Distal Bile Duct Adenocarcinoma

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


Clear Cell Intrahepatic Cholangiocarcinoma

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


Stage I Distal Bile Duct Cancer AJCC v8

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


Metastatic Hilar Cholangiocarcinoma

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


Stage IIIC Hilar Cholangiocarcinoma AJCC v8

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


Unresectable Distal Bile Duct Adenocarcinoma

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


Recurrent Distal Bile Duct Adenocarcinoma

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


Extrahepatic Bile Duct Neuroendocrine Carcinoma

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


Stage I Hilar Cholangiocarcinoma AJCC v7

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


Locally Advanced Unresectable Cholangiocarcinoma

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


Stage IV Hilar Cholangiocarcinoma AJCC v8

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


Bile duct cancer resectable

Extrahepatic bile duct carcinoma that is amenable to surgical removal.


Locally Advanced Bile Duct Carcinoma

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


Cholangiocarcinoma metastatic

A cholangiocarcinoma that has metastasized to other anatomic sites.


Advanced Bile Duct Carcinoma

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


Stage IVA Hilar Cholangiocarcinoma AJCC v7

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


Locally Advanced Intrahepatic Cholangiocarcinoma

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


Metastatic Distal Bile Duct Adenocarcinoma

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


intestinal type adenocarcinoma of extrahepatic bile duct

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


Stage III Intrahepatic Cholangiocarcinoma AJCC v7

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


Bile duct cancer recurrent

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


Stage III Intrahepatic Cholangiocarcinoma AJCC v8

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


Stage IV Distal Bile Duct Cancer AJCC v8

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


Stage IIIA Distal Bile Duct Cancer AJCC v8

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


Refractory Bile Duct Carcinoma

Bile duct carcinoma that is resistant to treatment.


Stage IIIB Intrahepatic Cholangiocarcinoma AJCC v8

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


The reemergence of intrahepatic cholangiocarcinoma after a period of remission.


Recurrent Extrahepatic Bile Duct Carcinoma

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


Refractory Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that is resistant to treatment.


anaplastic carcinoma of extrahepatic bile duct

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


Hilar Cholangiocarcinoma by AJCC v8 Stage

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


Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7

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


Stage II Distal Bile Duct Cancer AJCC v8

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


Stage IVA Hilar Cholangiocarcinoma AJCC v8

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


Stage I Hilar Cholangiocarcinoma AJCC v8

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


Stage II Hilar Cholangiocarcinoma AJCC v8

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


Stage II Intrahepatic Cholangiocarcinoma AJCC v8

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


Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma

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


Intrahepatic Cholangiocarcinoma by AJCC v8 Stage

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


Stage IV Intrahepatic Cholangiocarcinoma AJCC v8

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


Stage IIB Distal Bile Duct Cancer AJCC v7

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


Stage IIIA Hilar Cholangiocarcinoma AJCC v8

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


Distal Bile Duct Cancer by AJCC v8 Stage

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


Metastatic Extrahepatic Bile Duct Carcinoma

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


Extrahepatic Bile Duct Adenocarcinoma, Biliary Type

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


Stage IB Intrahepatic Cholangiocarcinoma AJCC v8

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


carcinosarcoma of extrahepatic bile duct

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


Stage IV Distal Bile Duct Cancer AJCC v7

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


Stage IIB Distal Bile Duct Cancer AJCC v8

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


Stage 0 Hilar Cholangiocarcinoma AJCC v7

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


Stage IA Distal Bile Duct Cancer AJCC v7

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


Locally Advanced Extrahepatic Bile Duct Carcinoma

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


Unresectable Bile Duct Carcinoma

Bile duct carcinoma that is not amenable to surgical resection.


Stage IIIB Distal Bile Duct Cancer AJCC v8

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


Stage IVB Hilar Cholangiocarcinoma AJCC v7

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


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


Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma

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


Unresectable Hilar Cholangiocarcinoma

Hilar cholangiocarcinoma that is not amenable to surgical resection.


Stage III Hilar Cholangiocarcinoma AJCC v8

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


Intrahepatic Cholangiocarcinoma by AJCC v7 Stage

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


Stage IIIA Intrahepatic Cholangiocarcinoma AJCC v8

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


Stage IIA Distal Bile Duct Cancer AJCC v8

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


Stage II Intrahepatic Cholangiocarcinoma AJCC v7

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


Refractory Distal Bile Duct Adenocarcinoma

Distal bile duct adenocarcinoma that is resistant to treatment.


Metastatic Distal Bile Duct Carcinoma

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


Extrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

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


Intrahepatic cholangiocarcinoma that is amenable to surgical resection.


Stage IIA Distal Bile Duct Cancer AJCC v7

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


Cholangiocarcinoma recurrent

The reemergence of cholangiocarcinoma after a period of remission.


Small Duct Intrahepatic Cholangiocarcinoma

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


Stage 0 Intrahepatic Cholangiocarcinoma AJCC v8

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


Distal Bile Duct Cancer by AJCC v7 Stage

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


Intrahepatic cholangiocarcinoma that is resistant to treatment.


Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type

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


Intrahepatic cholangiocarcinoma that is not amenable to surgical removal.


Stage II Hilar Cholangiocarcinoma AJCC v7

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


Stage III Distal Bile Duct Cancer AJCC v7

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


Locally Advanced Cholangiocarcinoma

Cholangiocarcinoma that has spread to nearby tissues or lymph nodes.


Stage I Intrahepatic Cholangiocarcinoma AJCC v8

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


Unresectable Extrahepatic Bile Duct Carcinoma

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


Stage IIIB Hilar Cholangiocarcinoma AJCC v8

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


Resectable Extrahepatic Bile Duct Adenocarcinoma

Extrahepatic bile duct adenocarcinoma that is amenable to surgical resection.


Stage IIIA Hilar Cholangiocarcinoma AJCC v7

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


Intrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

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


Stage I Intrahepatic Cholangiocarcinoma AJCC v7

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


Stage III Distal Bile Duct Cancer AJCC v8

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


Bile duct adenocarcinoma resectable

Bile duct adenocarcinoma that is amenable to surgical resection.


Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma

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


Stage 0 Distal Bile Duct Cancer AJCC v8

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


Stage 0 Distal Bile Duct Cancer AJCC v7

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


Refractory Cholangiocarcinoma

Cholangiocarcinoma that is resistant to treatment.


large cell neuroendocrine carcinoma of extrahepatic bile duct

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


ectonucleotide pyrophosphatase/phosphodiesterase family member 2 isoform h2 (human)

An ectonucleotide pyrophosphatase/phosphodiesterase family member 2 (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:Q13822-2.


choroid spindle cell melanoma

A spindle cell melanoma that involves the optic choroid.


choroid epithelioid cell melanoma

A epithelioid cell melanoma that involves the optic choroid.


choroid necrotic melanoma

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


choroid mixed cell melanoma

A mixed cell uveal melanoma that involves the optic choroid.


intermediate cell type choroid melanoma

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


fumaric aciduria

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


Ankle Injuries

Trauma to the ankle joint.


basilar artery insufficiency

A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.


vertebral artery insufficiency

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


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


Anal Intraepithelial Neoplasia 2

Anal canal or perianal skin intraepithelial neoplasia with moderate dysplasia.


insulin receptor N-glycosylated 3 (rat)

An insulin receptor (rat) that has been N-glycosylated at the residue equivalent to Asn-921 of the amino acid sequence represented by UniProtKB:P15127-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:P15127-1, Asn-921, MOD:00160~GNO:G31852PQ.


temporal lobe cancer

A cancer that involves the temporal lobe.


neoplasm of temporal lobe

A neoplasm (disease) that involves the temporal lobe.


immunoglobulin heavy constant epsilon N-glycosylated 29 (human)

An immunoglobulin heavy constant epsilon (human) that has been N-glycosylated at the residue equivalent to Asn-99 of the amino acid sequence represented by UniProtKB:P01854-1, in which the glycan structure is represented by GlyTouCan:G65219TP. Example: UniProtKB:P01854-1, Asn-99, MOD:00160~GNO:G65219TP.


Prostate Carcinoma Metastatic in the Bone

A carcinoma that arises from the prostate gland and has spread to the bone.


Breast Carcinoma Metastatic in the Bone

A carcinoma that arises from the breast and has metastasized to the bone.


Breast Carcinoma Metastatic in the Spine

A carcinoma that arises from the breast and has spread to the spine.


Plasma Cell Myeloma-Induced Bone Disease

Bone infiltration by malignant plasma cells in patients with history of plasma cell myeloma. Bone involvement occurs in approximately eighty percent of newly diagnosed symptomatic plasma cell myeloma patients. The axial skeleton, particularly the spine, and the proximal long bones are the most commonly affected bone sites. It results in osteolytic bone lesions, widespread osteopenia, and compression fractures.


Lung Carcinoma Metastatic in the Bone

A carcinoma that arises from the lung and has metastasized to the bone.


syndromic disease

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.


Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.


piriformis syndrome

A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.


Ectopic Chorionic Gonadotropin Secretion Syndrome

A syndrome characterized by abnormal secretion of chorionic gonadotropin in conjunction with neoplastic growth occurring anywhere in the body.


yellow nail syndrome

A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.


Combined Immunodeficiencies Associated with Syndromic Features

A group of genetic immunodeficiency syndromes with unique clinical features and well-characterized underlying immune defects, comprised of: CID with congenital thrombocytopenia; CID due to DNA repair defects other than forms of SCID in category I; CID due to thymic defects with additional congenital anomalies; CID with immunoosseous dysplasias; Hyper-IgE syndromes (HIES); CID due to defects of vitamin B12 and folate metabolism; Anhidrotic ectodermal dysplasia with immunodeficiency; CID due to calcium channel defects; and various other CID with unique clinical phenotypes.


Joubert syndrome 3

Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.


myelodysplastic syndrome with excess blasts-1

A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)


Microscopic enteritis

Diagnosis of celiac disease at a later age despite an asymptomatic clinical course. Serologic evidence with minimal histological changes in the intestinal mucosa are noted. The presence of human tissue transglutaminase, endomysial and gliadin antibodies without substantial villous changes follow many years of a seemingly gluten-tolerant diet. Despite an unremarkable clinical course, continued unrestricted gluten intake may predispose to the same sequelae as overt disease.


childhood myelodysplastic syndrome

An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.


Insulin resistance syndrome

A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome.


synpolydactyly

A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).


Congenital Bone Marrow Failure Syndromes

A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome.


familial atypical multiple mole melanoma syndrome

An autosomal dominant hereditary neoplastic syndrome characterized by the presence of multiple melanocytic nevi, some of which are atypical, and a family history of melanoma. Patients are at an increased risk of developing melanoma and pancreatic cancer.


opsoclonus-myoclonus syndrome

Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.


Bernard-Soulier syndrome

Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.


BENTA disease

BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.


familial cold autoinflammatory syndrome

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.


Familial Atypical Hemolytic Uremic Syndrome

Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria.


diencephalic syndrome

Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.


isotretinoin syndrome

Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.


purine nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.


Interferon Regulatory Factor 8 Deficiency

A genetic condition caused by mutation(s) in the IRF8 gene encoding interferon regulatory factor 8. Autosomal dominant (Immunodeficiency 32A) and autosomal recessive (Immunodeficiency 32B) genetic alterations result in different phenotypes, both of which have impairment of function in dendritic cells.


Dubowitz syndrome

A rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.


immunoglobulin heavy chain deficiency

A disorder that affects the production of complete immunoglobulins. Deletions in the heavy chain genes on chromosome 14 disrupt the synthesis and secretion of properly functioning antibodies resulting in monoclonal populations of truncated heavy chains without covalently bonded light chains. Such deletions have been implicated as playing a significant role in several diseases including leukemias, lymphomas and myelomas.


Behr syndrome

A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.


pseudopseudohypoparathyroidism

A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).


Allergy to penicillin

An allergy to Penicillin.


Diamond-Blackfan anemia 5

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.