Moderate dysplasia of rectum

A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.


Esophageal Columnar Dysplasia

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

A morphologic finding the replacement of the normal lower esophagus squamous epithelium with columnar epithelium.


Dysplasia of rectum

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

A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the rectal mucosa.  There is no evidence of invasion.


High Grade Dysplasia in Inflammatory Bowel Disease

A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Liver Dysplastic Foci

A morphologic finding indicating the presence of single or multiple foci of hepatocytes that exhibit dysplastic changes.  These microscopic foci measure less than 1 mm in diameter and are usually detected in cirrhotic livers.


Indefinite for Gastric Dysplasia

A term used to describe an ambiguous morphologic pattern in the gastric mucosa, when there is doubt whether the findings represent a non-neoplastic or neoplastic pathologic process.


Mild dysplasia of rectum

A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.


Moderate esophageal dysplasia

A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the epithelium of the esophageal mucosa. There is no evidence of invasion.


dioctophymiasis

A disease caused by infection with Dioctophyme renale.


Enoplea infectious disease

Infections with nematodes of the order enoplida.


Trichinella spiralis infectious disease

An disease or disorder caused by infection with Trichinella spiralis.


heterotaxy, visceral, 10, autosomal, with male infertility


malignant central nervous system mesenchymal, non-meningothelial neoplasm

A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.


central nervous system melanocytic neoplasm

A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.


central nervous system extraskeletal osteosarcoma

An osteosarcoma arising from the brain or spinal cord.


diencephalic cancer

A cancer involving a diencephalon.


meningeal melanomatosis

A meningeal melanoma with secondary diffuse meningeal spread. (WHO)


cerebral sarcoma

A sarcoma involving a telencephalon.


cerebral lymphoma

A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.


primary intracranial sarcoma, DICER1-mutant

A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.


meningeal sarcoma

A rare sarcoma arising from the meninges.


malignant leptomeningeal tumor

A primary or metastatic malignant tumor involving the leptomeninges.


anaplastic meningioma

A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).


skin meningioma

A meningioma (disease) that involves the zone of skin.


parasagittal meningioma

A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.


choroid plexus meningioma

A meningioma that affects the choroid plexus.


intraventricular meningioma

A meningioma that affects the ventricles of the brain.


spinal meninges cancer

A malignant neoplasm involving the meninx of spinal cord.


primary melanoma of the central nervous system

A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.


pineal gland cancer

Abnormal malignant growth of the cells that comprise the pineal parenchyma.


adult leptomeningeal melanoma

A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.


cerebral hemisphere cancer

A cancer that involves the cerebral hemisphere.


childhood brain stem neoplasm

A neoplasm that affects the brain stem and occurs during childhood.


cerebellopontine angle embryonal tumor

A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.


lateral ventricle meningioma

A meningioma that affects the lateral ventricle of the brain.


primary skin meningioma

A rare extracranial meningioma that arises from the skin.


malignant carotid body paraganglioma

A carotid body paraganglioma that metastasizes to other anatomic sites.


brainstem cancer

A primary or metastatic malignant neoplasm that affects the brain stem.


meningeal melanocytoma

A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.


paragangliomas 5

Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.


frontal convexity meningioma

A meningioma that affects the frontal sulcus.


infratentorial cancer

Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.


central nervous system sarcoma

A sarcoma that arises from the central nervous system.


cerebral primitive neuroectodermal tumor

A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.


cancer of cerebellum

A cancer that involves the cerebellum.


intracranial extraskeletal myxoid chondrosarcoma

An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.


intracerebral cystic meningioma

A cystic meningioma that grows within the cerebral hemispheres.


cerebral ventricle cancer

A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.


thalamic cancer

A cancer involving a dorsal plus ventral thalamus.


parietal lobe cancer

A malignant neoplasm involving the parietal lobe


cerebral convexity meningioma

A meningioma that affects the cerebral sulcus.


pituitary cancer

A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.


leptomeningeal sarcoma

A sarcoma arising from the leptomeninges.


brain sarcoma

A sarcoma arising from the brain.


diffuse meningeal melanocytosis

A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)


cerebral meningioma

A meningioma that affects the cerebral hemispheres.


leptomeningeal melanoma

A melanoma that arises from leptomeningeal melanocytes.


malignant jugulotympanic paraganglioma

A jugulotympanic paraganglioma that metastasizes to other anatomic sites.


sarcomatosis of the meninges

A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.


central nervous system angiosarcoma

A malignant vascular neoplasm arising from the brain, spinal cord or meninges.


choroid plexus cancer

A malignant neoplasm involving the choroid plexus


paragangliomas 4

Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.


malignant tumor of meninges

A cancer that involves the meningeal cluster.


central nervous system leiomyosarcoma

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


paragangliomas 2

Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.


pediatric leptomeningeal melanoma

A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.


transient receptor potential cation channel subfamily M member 4 isoform r1 (rat)

A transient receptor potential cation channel subfamily M member 4 (rat) 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:Q9ESQ5-1.


transient receptor potential cation channel subfamily M member 4 isoform r2 (rat)

A transient receptor potential cation channel subfamily M member 4 (rat) 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:Q9ESQ5-2.


retinitis pigmentosa 27

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


protein delta homolog 1 O-glycosylated 2 (human)

A protein delta homolog 1 (human) that has been O-glycosylated at the residue equivalent to Thr-269 of the amino acid sequence represented by UniProtKB:P80370-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P80370-1, Thr-269, MOD:00005~GNO:G43417UB.


Procyanidin C2

A proanthocyanidin consisting of three (+)-catechin trimer joined by two successive (4alpha->8)-linkages.


Stage I Ureter Cancer AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Renal Pelvis and Ureter Cancer AJCC v8


Charcot-Marie-Tooth disease axonal type 2S

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.


Stage III Intermediate Grade Adult Non-Hodgkin's Lymphoma


variola minor infection

A orthopoxvirus that causes a milder clinical syndrome than smallpox.


syndromic urogenital tract malformation

A urogenital tract malformation that is part of a larger syndrome.


congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome


caudal regression-sirenomelia spectrum

Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.


spondylocostal dysostosis-anal and genitourinary malformations syndrome

Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.


8p23.1 microdeletion syndrome

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.


mixed gonadal dysgenesis

A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.


acrofrontofacionasal dysostosis 2

A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.


lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.


lethal hemolytic anemia-genital anomalies syndrome

Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.


X-linked Opitz G/BBB syndrome

X-linked form of Opitz G/BBB syndrome.


Turner syndrome due to structural X chromosome anomalies


48,XYYY syndrome

48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.


Timothy syndrome type 2

Classical Timothy syndrome without cutaneous syndactyly.


long QT syndrome 9

Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.


Timothy syndrome type 1

Classical Timothy syndrome with cutaneous syndactyly.


long QT syndrome 10

Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.


Jervell and Lange-Nielsen syndrome 1

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


long QT syndrome 6

Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.


Timothy syndrome, atypical type

Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.


Jervell and Lange-Nielsen syndrome 2

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


long QT syndrome 13

Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.


long QT syndrome 11

Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.


long QT syndrome 15

Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.


long QT syndrome 12

Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.


Timothy syndrome, classic type

Classic form of Timothy syndrome, includes all features of generic.


ectopia lentis 2, isolated, autosomal recessive

An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.


Stage IIIC Eyelid Carcinoma AJCC v7

Stage IIIC includes: T4, Any N, M0.  T4: Tumor is not resectable due to extensive invasion of ocular, orbital, craniofacial structures, or brain.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIA Eyelid Carcinoma AJCC v8

Stage IIA includes: T2b-c, T3, N0, M0: T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Eyelid Carcinoma AJCC v7

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


Stage IIIB Eyelid Carcinoma AJCC v7

Stage IIIB includes: Any T, N1, M0.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v7

Stage II includes: T3a, N0, M0.  T3a: Tumor more than 20 mm in greatest dimension.  Or, any tumor that invades adjacent ocular or orbital structures.  Or, any T with perineural tumor invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IC Eyelid Carcinoma AJCC v7

Stage IC includes: T2b, N0, M0.  T2b: Tumor more than 10 mm, but not more than 20 mm in greatest dimension.  Or, tumor involves full thickness of the eyelid.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IIIB Eyelid Carcinoma AJCC v8

Stage IIIB includes: Any T, N2, M0. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Eyelid Carcinoma AJCC v8

Stage I includes: IA: T1, N0, M0; IB: T2a, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Basal cell carcinoma of eyelid

A basal cell carcinoma that arises from the eyelid.


Stage IIIA Eyelid Carcinoma AJCC v8

Stage IIIA includes: Any T, N1, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v7

Stage IB includes: T2a, N0, M0.  T2a: Tumor more than 5 mm, but not more than 10 mm in greatest dimension.  Or, any tumor that invades the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IV Eyelid Carcinoma AJCC v7

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


Stage IIB Eyelid Carcinoma AJCC v8

Stage IIB includes: T4, N0, M0. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Eyelid Carcinoma by AJCC v8 Stage

A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all primary carcinomas of the eyelid, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), sebaceous carcinoma, and other rare carcinomas, such as all varieties of sweat gland carcinoma (e.g., eccrine carcinoma). It does not apply to carcinomas of the head and neck with direct extension to eyelid (are staged according to the cutaneous squamous cell carcinomas of the head and neck), Merkel cell carcinomas of the eyelid (are staged according to the classification for Merkel cell carcinomas), and melanomas of the eyelid (are staged according to the classification for melanomas of the skin).  (from AJCC 8th Ed.)


Stage 0 Eyelid Carcinoma AJCC v8

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


Stage IIIA Eyelid Carcinoma AJCC v7

Stage IIIA includes: T3b, N0, M0.  T3b: Complete tumor resection requires enucleation, exenteration, or bone resection.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Eyelid Carcinoma by AJCC v7 Stage

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


Stage IA Eyelid Carcinoma AJCC v7

Stage IA includes: T1, N0, M0.  T1: Tumor 5 mm or less in greatest dimension.  No invasion of the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v8

Stage II includes: IIA: T2b-c, T3, N0, M0; IIB: T4, N0, M0. T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage III Eyelid Carcinoma AJCC v8

Stage III includes: IIIA: Any T, N1, M0; IIIB: Any T, N2, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v8

Stage IB includes: T2a, N0, M0. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IA Eyelid Carcinoma AJCC v8

Stage IA includes: T1, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IV Eyelid Carcinoma AJCC v8

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


spina bifida cystica

A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


posterior meningocele

Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.


papillary meningioma of the cerebellum

A papillary meningioma that affects the cerebellum.


Stage II Uterine Corpus Leiomyosarcoma AJCC v8

Stage II includes: T2, N0, M0. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Non-Neoplastic Dental Disorder

A non-neoplastic disorder that affects the teeth and/or the periodontal tissues.  Representative examples include odontoma, enamel hypoplasia, and periodontitis.


Cemento-osseous dysplasia

A non-neoplastic fibro-osseous lesion of the tooth-bearing regions of the gnathic bones. It is characterized by a variably cellular fibrous stroma with areas of swirling and/or loose collagen. Within the stroma are mineralizing tissues consisting of osteoid, bone, and cementum-like material. As the lesions mature, they become increasingly calcified. (WHO 2017)


acute pericementitis

An acute inflammatory process that affects the tissues that surround and support the teeth.


suppurative periapical periodontitis

Localized collection of pus in the tissues that enclose the root of a tooth.


chronic periodontitis

A chronic inflammatory process that affects the tissues that surround and support the teeth.


Odontoma, Compound

A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It usually affects children and adolescents. It is characterized by the presence of tooth-like structures. Treatment consists of local excision. Recurrences have not been reported.


Periodontal infection

An infectious process affecting the tissues that surround and support the teeth.


Dental disorders congenital

A non-neoplastic dental disorder that is present at birth.


Dental pain and sensation disorders

A term that refers to disorders that result in pain and abnormal sensation in the teeth and/or periodontal tissues.


florid cemento-osseous dysplasia

Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.


Periodontal Abscess

An acute purulent bacterial infection that arises from the tissues that surround and support the teeth.


Dental and Periodontal Infection

An infectious process that affects the teeth and/or the periodontal tissues.


Periapical Cemento-Osseous Dysplasia

Cemento-osseous dysplasia affecting the apical areas of mandibular anterior teeth. (WHO 2017)


Chronic pericoronitis

Long-term inflammation of the gingiva surrounding the crown of a tooth, usually of an incompletely erupted tooth.


Dental Developmental Disorder

A disorder of the teeth arising during odontogenesis.


Complex odontoma

A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It is one of the most common odontogenic tumors and it usually affects children, adolescents, and young adults. It is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur.


Hypotensive Shock

Shock resulting from abnormally low blood pressure.


tissue-type plasminogen activator N-glycosylated 79 (human)

A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-483 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G02000AU. Example: UniProtKB:P00750-1, Asn-483, MOD:00160~GNO:G02000AU.


Polymorphic lymphoproliferative disorder following transplant

A clonal B-cell lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by destructive infiltration of lymph nodes and extranodal sites by a polymorphic B-cell infiltrate composed of small and medium sized lymphocytes, immunoblasts, and plasma cells. In some cases, reduction of the immunosuppression therapy may lead to regression of the lesions. In other cases the lesions may progress to lymphoma.


Refractory Polymorphic Post-Transplant Lymphoproliferative Disorder

A polymorphic post-transplant lymphoproliferative disorder that does not respond to treatment.


Recurrent Polymorphic Post-Transplant Lymphoproliferative Disorder

The reemergence of polymorphic post-transplant lymphoproliferative disorder after a period of remission.


tyrosine-protein phosphatase non-receptor type 11 phosphorylated 1 (human)

A tyrosine-protein phosphatase non-receptor type 11 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-546 of the amino acid sequence represented by UniProtKB:Q06124. UniProtKB:Q06124, Tyr-546, MOD:00048.


Grade 2 Postoperative Hemorrhage, CTCAE

Moderate bleeding requiring transfusion < 2 units (10 cc/kg for pediatrics) of pRBCs


congenital hypotrichosis with juvenile macular dystrophy

A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.


poly [ADP-ribose] polymerase 2 ADP-ribosylglutamate form (human)

A poly [ADP-ribose] polymerase 2 (human) that includes at least one ADP-ribosylated glutamic acid. UniProtKB:Q9UGN5, MOD:00300.


protein kinase C epsilon type isoform 1 (human)

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


Grade 3 Vaginal Infection, CTCAE

IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated


Pathologic Stage IIIA Gastric Cancer AJCC v8

Stage IIIA includes: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs.  N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Gastric Cancer by AJCC v8 Stage

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


Postneoadjuvant Therapy Stage III Gastric Cancer AJCC v8

Stage III includes: (T4a, N1, M0); (T3, N2, M0); (T2, N3, M0); (T4b, N0, M0); (T4b, N1, M0); (T4a, N2, M0); (T3, N3, M0); (T4b, N2, M0); (T4b, N3, M0); (T4a, N3, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage 0 Gastric Cancer AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage IVB Gastric Cancer AJCC v8

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


Pathologic Stage IIIB Gastric Cancer AJCC v8

Stage IIIB includes: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IIA Gastric Cancer AJCC v8

Stage IIA includes: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage III Gastric Cancer AJCC v8

Stage III includes: (T3, N1, N2, or N3, M0); (T4a, N1, N2, or N3, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IIIC Gastric Cancer AJCC v8

Stage IIIC includes: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IV Gastric Cancer AJCC v8

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


Clinical Stage IIA Gastric Cancer AJCC v8

Stage IIA includes: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Postneoadjuvant Therapy Stage I Gastric Cancer AJCC v8

Stage I includes: (T1, N0, M0); (T2, N0, M0); (T1, N1, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage IVA Gastric Cancer AJCC v8

Stage IVA includes: (T4b, Any N, M0): T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IIB Gastric Cancer AJCC v8

Stage IIB includes: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Postneoadjuvant Therapy Stage II Gastric Cancer AJCC v8

Stage II includes: (T3, N0, M0); (T2, N1, M0); (T1, N2, M0); (T4a, N0, M0); (T3, N1, M0); (T2, N2, M0); (T1, N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage II Gastric Cancer AJCC v8

Stage II includes: IIA: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0); IIB: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage I Gastric Cancer AJCC v8

Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Gastric Cancer by AJCC v8 Postneoadjuvant Therapy Stage

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


Pathologic Stage IA Gastric Cancer AJCC v8

Stage IA includes: (T1, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage II Gastric Cancer AJCC v8

Stage II includes: IIA: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0); IIB: (T3, N0, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage IIB Gastric Cancer AJCC v8

Stage IIB includes: (T3, N0, M0); (T4a, N0, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage IV Gastric Cancer AJCC v8

Stage IV includes: IVA: (T4b, Any N, M0); IVB: (Any T, Any N, M1). T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Gastric Cancer by AJCC v8 Pathologic Stage

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


Pathologic Stage I Gastric Cancer AJCC v8

Stage I includes: IA: (T1, N0, M0); IB: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage III Gastric Cancer AJCC v8

Stage III includes: IIIA: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0); IIIB: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0); IIIC: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N0: No regional lymph node metastasis.  N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Pathologic Stage IB Gastric Cancer AJCC v8

Stage IB includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Gastric Cancer by AJCC v8 Clinical Stage

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


Pathologic Stage 0 Gastric Cancer AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Postneoadjuvant Therapy Stage IV Gastric Cancer AJCC v8

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


polyazaalkane

Any azaalkane in which two or more carbons in the chain are replaced by nitrogen.


ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1 (human)

A ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1 that is encoded in the genome of human.


tyrosine-protein kinase Fer

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


tyrosine-protein kinase Fer isoform 1 (human)

A tyrosine-protein kinase Fer (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:P16591-1.


tyrosine-protein kinase Fer isoform 3 (human)

A tyrosine-protein kinase Fer isoform 3 that is encoded in the genome of human.


tyrosine-protein kinase Fer isoform h2 (human)

A tyrosine-protein kinase Fer (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:P16591-2.


Esophageal Atresia/Tracheoesophageal Fistula Type C

A type of esophageal atresia (EA) / tracheoesophageal fistula (TEF) in which the upper segment of the esophagus ends in a blind pouch and the lower segment is connected to the trachea via a TEF. This is the most common type of EA/TEF, which accounts for approximately 85 percent of cases.


H-type congenital tracheoesophageal fistula

Congenital tracheoesophageal fistula without esophageal atresia.


diamine acetyltransferase 1 isoform 1 (human)

A diamine acetyltransferase 1 isoform 1 that is encoded in the genome of human.


eIF-2-alpha kinase GCN2 isoform h2 (human)

An eIF-2-alpha kinase GCN2 (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:Q9P2K8-2.


Grade 4 Gallbladder Obstruction, CTCAE

Life-threatening consequences; urgent operative intervention indicated


serine/threonine-protein kinase PRKX

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


Tracheoarterial Fistula

An erosion through the tracheal wall into an artery.


Testicular Myeloid Sarcoma

A rare myeloid sarcoma that arises from the testis. At presentation the involvement is usually unilateral.


Phosphaturic mesenchymal tumor, benign

A phosphaturic mesenchymal tumor with benign histologic features.  It may recur locally but does not metastasize.  Complete excision is curative.


ribosomal protein S6 kinase beta-1 isoform 1 phosphorylated 1 (human)

A ribosomal protein S6 kinase beta-1 isoform 1 phosphorylated 1 in human. UniProtKB:P23443-1, Ser-441/Ser-447, MOD:00046|Thr-444, MOD:00047.


vertebral, cardiac, renal, and limb defects syndrome 3


congenital vertebral-cardiac-renal anomalies syndrome


vertebral, cardiac, renal, and limb defects syndrome 1


vertebral, cardiac, renal, and limb defects syndrome 2


Grade 1 Neonatal Rash, AE

An adverse event in a newborn characterized by localized rash.


cyclin-dependent kinase 9 phosphorylated 1 (human)

A cyclin-dependent kinase 9 (human) that has been phosphorylated on the residue at the position equivalent to Thr-186 of the amino acid sequence represented by UniProtKB:P50750-1. Example: UniProtKB:P50750-1, Thr-186, MOD:00047.


age related macular degeneration 1

An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.


Jejunal Melanoma

A melanoma that arises from the jejunum.


Jejunal Carcinoma

A carcinoma that arises from the jejunum.


tumor necrosis factor isoform 1 myristoylated 1 (human)

A tumor necrosis factor isoform 1 myristoylated 1 in human. UniProtKB:P01375-1, Lys-19/Lys-20, MOD:00087.


Grade 4 Vasovagal Reaction, CTCAE

Life-threatening consequences; urgent intervention indicated


African histoplasmosis

An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.


Histoplasma capsulatum infectious disease

An disease or disorder caused by infection with Histoplasma capsulatum.


histoplasmosis meningitis

An infectious meningitis caused by infection with Histoplasma capsulatum.


histoplasmosis retinitis

An retinitis caused by infection with Histoplasma capsulatum.


macular corneal dystrophy

Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.


Fuchs' endothelial dystrophy

Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.


gelatinous drop-like corneal dystrophy

Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.


Mounier-Kuhn syndrome

Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.


genochondromatosis type 1

Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.


genochondromatosis type 2

Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.


A 1-glycosyltriazole in which the glycosyl residue is specified as ribosyl.


Adverse Event Attributed to Investigational New Drug

An indication that an adverse event is causally related to the use of an investigational new drug (IND).


beta adrenergic receptor

An adrenoceptor protein whose active form binds adrenaline and related compounds and whose activity is mediated by G proteins that cause activation of adenylate cyclase.


beta-1 adrenergic receptor isoform 1 (mouse)

A beta-1 adrenergic receptor isoform 1 that is encoded in the genome of mouse.


beta-1 adrenergic receptor isoform 1 (rat)

A beta-1 adrenergic receptor isoform 1 that is encoded in the genome of rat.


beta-3 adrenergic receptor isoform A (mouse)

A beta-3 adrenergic receptor isoform 1 that is encoded in the genome of mouse.


beta-3 adrenergic receptor

A beta adrenergic receptor that is a translation product of the human ADRB3 gene or a 1:1 ortholog thereof.


beta-2 adrenergic receptor phosphoserine form (human)

A beta-2 adrenergic receptor (human) that includes at least one phosphorylated serine. UniProtKB:P07550, MOD:00046.


beta-1 adrenergic receptor

A beta adrenergic receptor that is a translation product of the human ADRB1 gene or a 1:1 ortholog thereof.


beta-1 adrenergic receptor phosphorylated 1 (human)

A beta-1 adrenergic receptor (human) that has been phosphorylated at Ser-312. UniProtKB:P08588, Ser-312, MOD:00046.


beta-2 adrenergic receptor ubiquitinated form (human)

A beta-2 adrenergic receptor (human) that includes at least one ubiquitinated lysine. UniProtKB:P07550, MOD:01148.


beta-2 adrenergic receptor

A beta adrenergic receptor that is a translation product of the human ADRB2 gene or a 1:1 ortholog thereof.


beta-2 adrenergic receptor phosphorylated 1 (human)

A beta-2 adrenergic receptor (human) that has been phosphorylated at Tyr-141. UniProtKB:P07550, Tyr-141, MOD:00048.


beta-3 adrenergic receptor isoform B (mouse)

A beta-3 adrenergic receptor (mouse) 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:P25962-2.


beta-3 adrenergic receptor isoform 1 (rat)

A beta-3 adrenergic receptor isoform 1 that is encoded in the genome of rat.


Stage IV Adult Hodgkin Lymphoma

Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.


Esophageal squamous cell carcinoma recurrent

An esophageal squamous cell carcinoma which has reappeared after a period of remission or after presumed treatment.


benign neoplasm of lacrimal gland

A benign neoplasm that involves the lacrimal gland.


lacrimal gland neoplasm

A neoplasm (disease) that involves the lacrimal gland.


lacrimal gland cancer

A malignant neoplasm involving the lacrimal gland.


vasoactive intestinal polypeptide receptor 1 isoform Long (human)

A vasoactive intestinal polypeptide receptor 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:P32241-2.


Grade 1 Hypercalcemia, CTCAE

Corrected serum calcium of >ULN-11.5 mg/dL; >ULN-2.9 mmol/L; Ionized calcium >ULN-1.5 mmol/L


Stargardt disease 4

Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.


vitamin K-dependent protein C N-glycosylated 3 (human)

A vitamin K-dependent protein C (human) that has been N-glycosylated at the residue equivalent to Asn-139 of the amino acid sequence represented by UniProtKB:P04070-1, in which the glycan structure is represented by GlyTouCan:G32246SI. Example: UniProtKB:P04070-1, Asn-139, MOD:00160~GNO:G32246SI.


Sporadic Cylindroma

A cylindroma occurring as a solitary sporadic lesion.


Grade 1 Muscle Intra-Operative Injury, CTCAE


Closed fracture of mandible, multiple sites

A traumatic break in two or more places in the mandible that does not involve a break in the adjacent skin.


Descending Colon Neuroendocrine Tumor G1

A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the descending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


Elevated Alpha-Hydroxyglutarate

A finding indicating elevated concentrations of alpha-hydroxyglutarate in a sample.


Grade 1 Dyspnea, CTCAE

Shortness of breath with moderate exertion


20q11.2 microdeletion syndrome

20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.


sodium- and chloride-dependent glycine transporter 2 isoform h1 (human)

A sodium- and chloride-dependent glycine transporter 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:Q9Y345-1.


Resectable Renal Cell Carcinoma

Renal cell carcinoma that is amenable to surgical resection.


alpha-2A adrenergic receptor isoform 1 (human)

An alpha-2A adrenergic receptor isoform 1 that is encoded in the genome of human.


alpha-2A adrenergic receptor isoform 1 (mouse)

An alpha-2A adrenergic receptor isoform 1 that is encoded in the genome of mouse.


urethral calculus

A concretion in the urethra.


prostate-specific antigen N-glycosylated 26 (human)

A prostate-specific antigen (human) that has been N-glycosylated at the residue equivalent to Asn-69 of the amino acid sequence represented by UniProtKB:P07288-1, in which the glycan structure is represented by GlyTouCan:G34306IB. Example: UniProtKB:P07288-1, Asn-69, MOD:00160~GNO:G34306IB.


retinitis pigmentosa 42

Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.


TDP-43 proteinopathy

Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.


4p16.3 microduplication syndrome

4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.


Grade 2 Liver Dysfunction or Failure by Clinical Classification, CTCAE


microtubule-associated protein tau isoform Tau-F phosphorylated 11 (human)

A microtubule-associated protein tau isoform Tau-F phosphorylated 11 in human. UniProtKB:P10636-8, Ser-214, MOD:00046|Thr-217, MOD:00047.


Intraocular Infection

Infection within the eye.


parasitic endophthalmitis

Infection of the epicondyles by a parasite.


A hydroxypolyether that is pentaethylene glycol in which one of the terminal hydrogens is replaced by a dodecyl group.


autoimmune vasculitis

An autoimmune form of vasculitis.


Cogan syndrome

Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.


Benign Epithelial Melanoses of the Conjunctiva

A group of benign, non-neoplastic lesions in the conjunctiva characterized by increased production of melanin without proliferation of conjunctival melanocytes.


Recurrent Breast Acinic Cell Carcinoma

The reemergence of acinic cell breast carcinoma after a period of remission.


immunoskeletal dysplasia with neurodevelopmental abnormalities


cranial nodular fasciitis

A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


Stage V Kidney Wilms Tumor

Wilms tumor that affects both kidneys at the same time. The tumor in each kidney is staged separately (National Wilms Tumor Study Group Staging System)


sodium channel subunit beta-1 isoform 1 (human)

A sodium channel subunit beta-1 isoform 1 that is encoded in the genome of human.


tyrosine-protein kinase ZAP-70 isoform 1 phosphorylated 1 (human)

A tyrosine-protein kinase ZAP-70 isoform 1 phosphorylated 1 in human.


tyrosine-protein kinase ZAP-70 isoform 1 (human)

A tyrosine-protein kinase ZAP-70 isoform 1 that is encoded in the genome of human.


tyrosine-protein kinase ZAP-70 phosphorylated 2 (human)

A tyrosine-protein kinase ZAP-70 (human) that has been post-translationally modified to include phosphotyrosine at positions 315 and 493 of the amino acid sequence represented by UniProtKB:P43403-1. Example: UniProtKB:P43403-1, Tyr-315/Tyr-493, MOD:00048.


tyrosine-protein kinase ZAP-70 phosphorylated 1 (human)

A tyrosine-protein kinase ZAP-70 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-319 of the amino acid sequence represented by UniProtKB:P43403-1. Example: UniProtKB:P43403-1, Tyr-319, MOD:00048.


tyrosine-protein kinase ZAP-70 isoform h3 (human)

A tyrosine-protein kinase ZAP-70 (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:P43403-3.


tyrosine-protein kinase ZAP-70 phosphorylated 3 (human)

A tyrosine-protein kinase ZAP-70 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-493 of the amino acid sequence represented by UniProtKB:P43403-1. Example: UniProtKB:P43403-1, Tyr-493, MOD:00048.


tyrosine-protein kinase ZAP-70 isoform 2 (human)

A tyrosine-protein kinase ZAP-70 isoform 2 that is encoded in the genome of human.


Grade 2 Pulmonary Edema, CTCAE

Moderate dyspnea on exertion; medical intervention indicated; limiting instrumental ADL


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


microtubule-associated protein tau isoform Tau-F phosphorylated 6 (human)

A microtubule-associated protein tau isoform Tau-F phosphorylated 6 in human. UniProtKB:P10636-8, Ser-416/Ser-422, MOD:00046|Thr-427, MOD:00047.


prostaglandin E2 receptor EP3 subtype isoform hEP3B (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-3.


prostanoid receptor

A rhodopsin-like G-protein coupled receptor that is a translation product of the human PTGDR, PTGDR2, PTGER1 to PTGER4, PTGFR, PTGIR, or TBXA2R genes, 1:1 orthologs thereof, or a semi-ortholog thereof. The active form binds prostanoids (prostaglandins and thromboxanes).


prostaglandin E2 receptor EP3 subtype isoform h12 (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-12.


prostaglandin F2-alpha receptor isoform h7 (human)

A prostaglandin F2-alpha 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:P43088-7.


prostaglandin D2 receptor isoform h2 (human)

A prostaglandin D2 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:Q13258-2.


prostaglandin F2-alpha receptor

A prostanoid receptor that is a translation product of the human PTGFR gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin F2a. This receptor is particularly prevalent in the corpus luteum, but is expressed in other tissues also.


prostaglandin D2 receptor isoform h1 (human)

A prostaglandin D2 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:Q13258-1.


prostaglandin F2-alpha receptor isoform h4 (human)

A prostaglandin F2-alpha 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:P43088-4.


prostaglandin E2 receptor EP3 subtype isoform Alpha (mouse)

A prostaglandin E2 receptor EP3 subtype isoform 1 that is encoded in the genome of mouse.


prostaglandin E2 receptor EP3 subtype isoform hEP3-IV (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-9.


prostaglandin E2 receptor EP3 subtype isoform hEP3E2 (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-11.


prostaglandin E2 receptor EP3 subtype isoform hEP3E (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-5.


prostaglandin F2-alpha receptor isoform h3 (human)

A prostaglandin F2-alpha 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:P43088-3.


prostaglandin E2 receptor EP1 subtype isoform 1 (rat)

A prostaglandin E2 receptor EP1 subtype isoform 1 that is encoded in the genome of rat.


prostaglandin E2 receptor EP3 subtype isoform Alpha (rat)

A prostaglandin E2 receptor EP3 subtype isoform 1 that is encoded in the genome of rat.


prostaglandin E2 receptor EP1 subtype isoform 1 (mouse)

A prostaglandin E2 receptor EP1 subtype isoform 1 that is encoded in the genome of mouse.


prostaglandin D2 receptor

A prostanoid receptor that is a translation product of the human PTGDR gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin D2 (PGD2). This receptor is found mainly in blood platelets, vascular smooth muscle, and nervous tissue. It is the least upiquitous of the prostanoid receptors, almost always occurring in association with other prostanoid receptor types.


prostaglandin E2 receptor EP2 subtype

A prostanoid receptor that is a translation product of the human PTGER2 gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin E2 (PGE2). This receptor is expressed mediates various effects, including relaxation of vascular smooth muscles, nonacid secretion from epithelial cells, inhibition of mediator release from mast cells and basophils, and activation of sensory afferent nerves.


prostaglandin E2 receptor EP3 subtype isoform hEP3A (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-1.


prostaglandin E2 receptor EP3 subtype isoform Beta (mouse)

A prostaglandin E2 receptor EP3 subtype isoform 2 that is encoded in the genome of mouse.


thromboxane A2 receptor

A prostanoid receptor that is a translation product of the human TBXA2R gene or a 1:1 ortholog thereof. The preferred ligand is thromboxane A2. This receptor is found mainly in vascular smooth muscle, where it mediates vasoconstriction, in platelets, where it mediates aggregation, and in airway smooth muscle.


thromboxane A2 receptor isoform h2 (human)

A thromboxane A2 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:P21731-2.


prostaglandin D2 receptor DP2

A prostanoid receptor that is a translation product of the human PTGDR2 gene or a 1:1 ortholog thereof. The preferred ligand is 11-dehydro-thromboxane B2. This receptor is not closely related to the prostaglandin D2 receptor encoded by PGD2.


thromboxane A2 receptor isoform 1 (mouse)

A thromboxane A2 receptor isoform 1 that is encoded in the genome of mouse.


prostaglandin E2 receptor EP1 subtype

A prostanoid receptor that is a translation product of the human PTGER1 gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin E2 (PGE2). This receptor has limited expression, although it is more evident in rodents than in other mammals.


prostacyclin receptor

A prostanoid receptor that is a translation product of the human PTGIR gene or a 1:1 ortholog thereof. The preferred ligand is prostacyclin (prostaglandin I2, PGI2). This receptor is widely distributed in blood platelets, vascular smooth muscle and nerve cells.


prostaglandin F2-alpha receptor isoform h1 (human)

A prostaglandin F2-alpha 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:P43088-1.


prostaglandin E2 receptor EP3 subtype isoform hEP3-V (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-10.


prostaglandin E2 receptor EP3 subtype isoform hEP3-III (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-8.


prostaglandin F2-alpha receptor isoform h6 (human)

A prostaglandin F2-alpha 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:P43088-6.


prostaglandin E2 receptor EP3 subtype isoform hEP3C (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-2.


prostaglandin E2 receptor EP3 subtype

A prostanoid receptor that is a translation product of the human PTGER3 gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin E2 (PGE2). This receptor is the most ubiquitous of the prostaglandin E2 receptors, mediating contraction of gastrointestinal, uterine, and vascular smooth muscle, inhibition of neurotransmitter release from autonomic nerves, inhibition of lipolysis in adipocytes, inhibition of acid secretion from gastric mucosa, and inhibition of water reabsorption in kidney.


prostaglandin E2 receptor EP1 subtype isoform r2 (rat)

A prostaglandin E2 receptor EP1 subtype (rat) 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:P70597-2.


prostaglandin E2 receptor EP3 subtype isoform hEP3G (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-7.


prostaglandin F2-alpha receptor isoform h5 (human)

A prostaglandin F2-alpha 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:P43088-5.


prostaglandin E2 receptor EP4 subtype

A prostanoid receptor that is a translation product of the human PTGER4 gene or a 1:1 ortholog thereof. The preferred ligand is prostaglandin E2. This receptor is not closely related to other prostaglandin E2 receptors.


prostaglandin E2 receptor EP3 subtype isoform hEP3D (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-4.


thromboxane A2 receptor isoform h1 (human)

A thromboxane A2 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:P21731-3.


prostaglandin E2 receptor EP3 subtype isoform hEP3F (human)

A prostaglandin E2 receptor EP3 subtype (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:P43115-6.


prostaglandin F2-alpha receptor isoform h2 (human)

A prostaglandin F2-alpha 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:P43088-2.


prostaglandin E2 receptor EP3 subtype isoform Gamma (rat)

A prostaglandin E2 receptor EP3 subtype isoform 3 that is encoded in the genome of rat.


prostaglandin E2 receptor EP3 subtype isoform Beta (rat)

A prostaglandin E2 receptor EP3 subtype isoform 2 that is encoded in the genome of rat.


prostaglandin E2 receptor EP3 subtype isoform Gamma (mouse)

A prostaglandin E2 receptor EP3 subtype isoform 3 that is encoded in the genome of mouse.


prostaglandin F2-alpha receptor isoform 1 (mouse)

A prostaglandin F2-alpha receptor isoform 1 that is encoded in the genome of mouse.


upper aerodigestive tract neoplasm

Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)


Adenocarcinoma in multiple adenomatous polyps

Adenocarcinomas developing in gastrointestinal tract adenomas in patients with multiple adenomatous polyps.


Adenocarcinoma in adenomatous polyposis coli

Adenocarcinomas developing in colorectal adenomas in patients with a history of adenomatous polyposis coli. The mean age of development of adenocarcinoma is about 40 years.


childhood parosteal osteosarcoma

A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.


peripheral osteosarcoma

A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.


high grade surface osteosarcoma

A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.


Childhood Periosteal Osteosarcoma

A periosteal osteosarcoma occurring in childhood.


periosteal osteogenic sarcoma

An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.


juxtacortical osteosarcoma

A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.


sodium/myo-inositol cotransporter 2 isoform h1 (human)

A sodium/myo-inositol cotransporter 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:Q8WWX8-1.


Dull Chest Pain

The sensation of chest pain described as a mild or blunted discomfort.


Grade 2 Stomach Infection with Unknown Absolute Neutrophil Count, CTCAE


A reactive cutaneous proliferation of macrophages. It is characterized by the presence of giant cells with ground-glass cytoplasm. It presents with multiple cutaneous or mucosal papules or nodules.


Epididymal Melanotic Neuroectodermal Tumor

A rare neoplasm that arises from the epididymis and is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It usually occurs in infants and has a benign clinical course.


serine/threonine-protein kinase Nek9, initiator methionine removed phosphorylated 3 (human)

A serine/threonine-protein kinase Nek9 (human) that has had the initiator methionine removed and has been post-translationally modified to include phosphoserine at positions 29, 750 and 869, and phosphothreonine at position 333 of the amino acid sequence represented by UniProtKB:Q8TD19. UniProtKB:Q8TD19, 2-979, Ser-29/Ser-750/Ser-869, MOD:00046|Thr-333, MOD:00047.


Grade 4 Cecum Stricture or Stenosis, CTCAE


Grade 5 Cecum Stricture or Stenosis, CTCAE


Grade 3 Cecum Stricture or Stenosis, CTCAE


Grade 1 Cecum Stricture or Stenosis, CTCAE


Grade 2 Cecum Stricture or Stenosis, CTCAE


facial nerve neoplasm

A neoplasm involving a facial nerve.


facial neuralgia

Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.


geniculate ganglionitis

Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.


familial isolated deficiency of vitamin E

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.


NIK deficiency

A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).


transient retinal arterial occlusion

A partial, temporary occlusion of the retinal artery.


Hepatic Arterial Occlusion

An occlusion of the hepatic artery.


Efferent Arteriolar Hyalinosis

The deposition of hyaline material in the wall of the efferent arterioles.


aortic disorder

Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)


Systemic Arterial Hypertensive Disorder

Any condition resulting in systemically elevated blood pressure that is attributed to an arterial source.


coronary atherosclerosis

Atherosclerosis of the coronary vasculature.


Three Vessel Coronary Disease

There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in three coronary arteries (or greater than or equal to 50% stenosis in the left main coronary artery and greater than or equal to 50% stenosis in the right coronary artery). (ACC)


generalized atherosclerosis

Atherosclerosis that is not localized.


arterial occlusion

Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.


partial arterial retinal occlusion

A partial occlusion of the retinal artery.


Infectious Arteritis

A bacterial or viral infectious process affecting an artery.


Overlap Necrotizing Arteritis

A necrotizing arteritis that exhibits characteristic features of several distinct vascular disorders.


vasculitis due to ADA2 deficiency

Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.


Necrotizing Arteritis

An arteritis characterized by the presence of inflammation and necrosis in the arterial wall.


Double coronary vessel disease

There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in two coronary arteries (or greater than or equal to 50% stenosis in the left main coronary artery). (ACC)


cerebral atherosclerosis

Atherosclerosis of the cerebral vasculature.


arteriolosclerosis

The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.


Monckeberg arteriosclerosis

A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.


One Vessel Coronary Disease

There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in one coronary artery. (ACC)


cutaneous polyarteritis nodosa

Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.


Generalised arteriosclerosis

Arteriosclerosis that is not localized.


Significant Arterial Dissection

A dissection that impairs flow. This includes Type C (a persisting contrast medium extravasation) in the presence of ischemia, Type D (a spiral filling defect with delayed but complete distal flow), Type E (persistent filling defect with delayed antegrade flow) and Type F (filling defect with impaired flow and total occlusion).


Hyaline arteriolosclerosis

The deposition of hyaline material in the wall of the arterioles.


granulomatous angiitis

Inflammation of the arteries that is characterized by the presence of granulomas.


Femoropopliteal Occlusive Disease

An occlusive disease of the femoropopliteal vascular system.


endarteritis

Inflammation of the arterial intima.


Lung Radiation Injury

Radiation injury of the pulmonary system.


middle ear cholesterol granuloma

As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.


Cholesterol granuloma

A cystic inflammatory lesion that is comprised of fluids, lipids, and cholesterol crystals, and which is surrounded by a fibrous lining.


Bronchospasm, Exercise-Induced

Sudden contraction of the smooth muscles of the bronchial wall that occurs during or following exercise.


Drug-induced cutaneous lupus erythematosus

A reaction to a drug characterized by skin findings common to lupus including photosensitivity and butterfly rash; typically it resolves after drug discontinuation.


lupus erythematosus tumidus

Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.


protein kinase C alpha type, initiator methionine removed phosphorylated 1 (human)

A protein kinase C alpha type (human) that has had the initiator methionine removed and has been post-translationally modified to include phosphothreonine at position 497 of the amino acid sequence represented by UniProtKB:P17252. UniProtKB:P17252, 2-672, Thr-497, MOD:00047.


hematopoietic prostaglandin D synthase, initiator methionine removed form (human)

A hematopoietic prostaglandin D synthase (human) that has had the initiator methionine removed. UniProtKB:O60760, 2-199.


clear cell sarcoma

A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.


Childhood Clear Cell Sarcoma of Soft Parts

A clear cell sarcoma of soft tissue occurring in children.


Metastatic Clear Cell Sarcoma of Soft Tissue

A clear cell sarcoma of soft tissue that has spread from the original site of growth to other anatomic sites.


Advanced Clear Cell Sarcoma of Soft Tissue

A clear cell sarcoma of soft tissue that has spread extensively to other anatomic sites or is no longer responding to treatment.


Recurrent Clear Cell Sarcoma of Soft Tissue

The reemergence of clear cell sarcoma of soft tissue after a period of remission.


Refractory Clear Cell Sarcoma of Soft Tissue

Clear cell sarcoma of soft tissue that is resistant to treatment.


homeodomain-interacting protein kinase 2 isoform h1 (human)

A homeodomain-interacting protein kinase 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:Q9H2X6-1.


homeodomain-interacting protein kinase 2

A protein that is a translation product of the human HIPK2 gene or a 1:1 ortholog thereof.


homeodomain-interacting protein kinase 2 isoform h2 (human)

A homeodomain-interacting protein kinase 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:Q9H2X6-2.


homeodomain-interacting protein kinase 2 isoform h3 (human)

A homeodomain-interacting protein kinase 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:Q9H2X6-3.


homeodomain-interacting protein kinase 2 phosphorylated form (human)

A homeodomain-interacting protein kinase 2 (human) that includes at least one phosphorylated residue. UniProtKB:Q9H2X6, MOD:00696.


COG4-congenital disorder of glycosylation

COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.


primary cutaneous gamma/delta-positive T-cell lymphoma

Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.


succinate-semialdehyde dehydrogenase, mitochondrial isoform h1 (human)

A succinate-semialdehyde dehydrogenase, mitochondrial (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:P51649-1.


fatty acid-binding protein 5 isoform 1 (human)

A fatty acid-binding protein 5 isoform 1 that is encoded in the genome of human.


fatty acid-binding protein 5, initiator methionine removed form (human)

A fatty acid-binding protein 5 (human) that has had the initiator methionine removed. UniProtKB:Q01469, 2-135.


Grade 4 Periorbital Infection, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 1 Carbon Monoxide Diffusing Capacity Decreased, CTCAE

3-5 units below LLN; for follow-up, a decrease of 3-5 units (ml/min/mm Hg) below the baseline value; asymptomatic and intervention not indicated


Locally Advanced Unresectable Gastric Adenocarcinoma

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


Metastatic Unresectable Carcinoma

A carcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.


Metastatic Unresectable Basal Cell Carcinoma

A basal cell carcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.


Locally Advanced Unresectable Esophageal Adenocarcinoma

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


Locally Advanced Unresectable Colorectal Adenocarcinoma

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


Locally Advanced Unresectable Gastroesophageal Junction Adenocarcinoma

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


Locally Advanced Unresectable Pancreatic Adenocarcinoma

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


Metastatic Unresectable Gastric Adenocarcinoma

A gastric adenocarcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.


Locally Advanced Unresectable Triple-Negative Breast Carcinoma

Triple-negative breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Unresectable Colon Adenocarcinoma

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


Locally Advanced Unresectable Basal Cell Carcinoma

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


Locally Advanced Unresectable Carcinoma

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


Locally Advanced Unresectable Prostate Adenocarcinoma

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


Locally Advanced Unresectable Breast Carcinoma

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


Unresectable Castration-Resistant Prostate Carcinoma

Castration-resistant prostate carcinoma that is not amenable to surgical resection.


Locally Advanced Unresectable Renal Cell Carcinoma

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


Locally Advanced Unresectable HER2-Negative Breast Carcinoma

HER2-negative breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Unresectable Cervical Adenocarcinoma

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


Locally Advanced Unresectable Lung Non-Small Cell Squamous Carcinoma

A non-small cell squamous carcinoma of the lung that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Unresectable HER2-Positive Breast Carcinoma

HER2-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Unresectable Fallopian Tube Carcinoma

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


Locally Advanced Unresectable Hormone Receptor-Positive Breast Carcinoma

Hormone receptor-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Unresectable Prostate Carcinoma

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


Locally Advanced Unresectable Cervical Carcinoma

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


Stage IA Uterine Sarcoma AJCC v7

Stage IA includes: T1a, N0, M0.  T1a: For leiomyosarcoma and endometrial stromal sarcoma: tumor 5 cm or less in greatest dimension.  For adenosarcoma: tumor limited to endometrium/endocervix.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


tonsil neoplasm

A neoplasm (disease) that involves the tonsil.


benign neoplasm of tonsil

A benign neoplasm that involves the tonsil.


tonsillar lipoma

A benign adipose tissue neoplasm of the tonsils.


Grade 5 Gastrointestinal Fistula, CTCAE

Death


Eccrine angiomatous hamartoma

A rare, congenital skin lesion consisting of a proliferation of eccrine glands with a vascular stroma. It presents as a flesh-colored, hyperhidrotic, painful papule or plaque appearing at birth or during childhood.


plantar fibromatosis

A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.


hereditary painful callosities

Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.


Grade 2 Palpitations, CTCAE

Intervention indicated


X-linked sideroblastic anemia with ataxia

A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.


Grade 4 Colonic Perforation, CTCAE

Life-threatening consequences; urgent intervention indicated


Undifferentiated Juvenile Idiopathic Arthritis

A category of juvenile idiopathic arthritis that does not fulfill any single category or has criteria for more than one category.


magnetite nanoparticle

A nanoparticle consisting of magnetite, Fe(2+)Fe(3+)2O4.


Stage IVB Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage IVB includes: T0, N3, M0. T0: No evidence of primary tumor. N3: Metastasis in a cervical lymph node larger than 6 cm in greatest dimension and ENE(-); or metastases in a single ipsilateral cervical lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral cervical lymph nodes, any size and ENE(+) in any node. M0: No distant metastasis. (AJCC 8th Ed.)


Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy by AJCC v8 Stage

A term that refers to the staging of unknown primary tumor (except for EBV-related and HPV-related tumors) and metastatic cervical adenopathy according to the American Joint Committee on Cancer, 8th edition.


Stage IVA Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage IVA includes: T0, N2, M0. T0: No evidence of primary tumor. N2: Metastasis in a single ipsilateral or contralateral cervical lymph node 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral cervical lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVC Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage IVC includes: T0, Any N, M1. T0: No evidence of primary tumor. M1: Distant metastasis. (AJCC 8th Ed.)


Stage III Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage III includes: T0, N1, M0. T0: No evidence of primary tumor. N1: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (extranodal extension)(-). M0: No distant metastasis. (AJCC 8th Ed.)


Recurrent Metastatic Merkel Cell Carcinoma

The reemergence of a metastatic Merkel cell carcinoma after a period of remission.


Recurrent Metastatic Malignant Neoplasm

The reemergence of a metastatic malignant neoplasm after a period of remission.


Recurrent Metastatic Melanoma

The reemergence of metastatic melanoma after a period of remission.


Recurrent Carcinoma of Unknown Primary

The reemergence of carcinoma from an unknown primary after a period of remission.


Recurrent Metastatic Digestive System Carcinoma

The reemergence of a metastatic digestive system carcinoma after a period of remission.


Recurrent Pseudomyxoma Peritonei

The reemergence of pseudomyxoma peritonei after a period of remission.


Recurrent Metastatic Malignant Neoplasm in the Leptomeninges

The reemergence of a metastatic malignant neoplasm in the leptomeninges after a period of remission.


Recurrent Metastatic Gastric Carcinoma

The reemergence of metastatic gastric carcinoma after a period of remission.


Recurrent Metastatic Skin Squamous Cell Carcinoma

The reemergence of a metastatic skin squamous cell carcinoma after a period of remission.


Grade 2 Sinus Intra-Operative Injury, CTCAE


nuclear receptor ROR-gamma isoform 1 (human)

A nuclear receptor ROR-gamma (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:P51449-1.


nuclear receptor ROR-gamma isoform h2 (human)

A nuclear receptor ROR-gamma (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:P51449-2.


Mitochondrially Inherited Nonsyndromic Sensorineural Deafness

A maternally inherited form of nonsyndromic sensorineural deafness that is caused by a mutation in any of several mitochondrial genes.


Deafness due to Connexin 26 Gene Anomaly

Congenital deafness caused by mutations in the gene GJB2 (deafness gene).