benign endometrioid tumor of ovary

description: A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma.


name: Stage IIIC Ovarian Germ Cell Tumor AJCC v6 and v7

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

description: Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal metastasis beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Proliferating Brenner Tumor

description: A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic atypical urothelial-type cells in a fibrotic stroma without evidence of invasion.


Typical Ovarian Thecoma

description: An ovarian thecoma characterized by the presence of cells with uniform nuclei and abundant vacuolated cytoplasm.  Mitoses are not present or, when present, are rare.


name: Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor with Intraepithelial Carcinoma

description: A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic mucinous epithelial cells, atypia, and the presence of intraepithelial carcinoma.


name: Unresectable Ovarian Mucinous Adenocarcinoma

description: Ovarian mucinous adenocarcinoma that is not amenable to surgical resection.


choriocarcinoma of ovary

description: A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.


Ovarian Dedifferentiated Carcinoma

description: An aggressive carcinoma arising from the ovary.  Most patients present with advanced disease.  Microscopically, it is characterized by the presence of an undifferentiated carcinomatous component and a second component of either endometrioid carcinoma or, rarely, serous carcinoma.


name: Borderline Ovarian Endometrioid Cystadenofibroma

description: An epithelial neoplasm that arises from the ovary characterized by the presence of cystic spaces which are lined by atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is fibrotic. There is no evidence of stromal invasion.


name: Ovarian Sex Cord Tumor with Annular Tubules

description: An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course.


name: Stage III Ovarian Germ Cell Tumor AJCC v6 and v7

description: Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage III Ovarian Cancer AJCC v8

description: Stage III includes: IIIA1: T1/2, N1, M0; IIIA2: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Ovarian cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Ovarian cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


name: Stage II Ovarian Embryonal Carcinoma AJCC v6 and v7

description: Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Ovarian Retiform Sertoli-Leydig Cell Tumor

description: A Sertoli-Leydig cell tumor of the ovary in which anastomosing, slit-like spaces resembling rete testis constitute at least 90% of the tumor elements. It may present with estrogenic and less often androgenic manifestations. It usually follows a benign clinical course.


name: Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor

description: A non-invasive neoplasm that arises from the ovary and is composed of gastrointestinal-type, mucin-containing epithelial cells.  It shows greater cellular proliferation and cytologic atypia as compared to benign ovarian mucinous tumors.


name: Unresectable Platinum-Resistant Ovarian Carcinoma

description: Platinum-resistant ovarian carcinoma that is not amenable to surgical resection.


name: Ovarian germ cell choriocarcinoma stage IV

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


name: Borderline Ovarian Clear Cell Tumor/Atypical Proliferative Ovarian Clear Cell Tumor

description: A non-invasive clear cell adenofibromatous neoplasm that arises from the ovary. It is characterized by the presence of atypia in the glandular epithelium.


name: Stage IIIA Choroidal and Ciliary Body Melanoma AJCC v8

description: Stage IIIA includes: (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0). T2c: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T2d: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T3b: Tumor size category 3 with ciliary body involvement. T3c: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T4a: Tumor size category 4 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis.  (AJCC 8th ed.)


mast cell chemotaxis

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

description: The movement of a mast cell in response to an external stimulus.


panobinostat

A hydroxamic acid obtained by formal condensation of the carboxy group of (2E)-3-[4-({[2-(2-methylindol-3-yl)ethyl]amino}methyl)phenyl]prop-2-enoic acid with the amino group of hydroxylamine. A histone deacetylase inhibitor used (as its lactate salt) in combination with bortezomib and dexamethasone for the treatment of multiple myeloma.


mosaic trisomy 16

description: Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.


name: 4-methyl-2-[3-methyl-4-(3-methylphenyl)azo-5-oxo-4H-pyrazol-1-yl]-5-thiazolecarboxylic acid ethyl ester


ISONICOTINIC ACID

A pyridinemonocarboxylic acid in which the carboxy group is at position 4 of the pyridine ring.


name: double membrane vesicle viral factory membrane

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

description: One of the two endoplasmic reticulum-derived lipid bilayer membranes that bound a double membrane vesicle viral factory.


name: Postneoadjuvant Therapy Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIIB includes: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or 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. M0: No distant metastasis. (AJCC 8th ed.)


Vitamin C deficiency anemia

description: Anemia associated with vitamin C deficiency.


Gastric Cardia Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the gastric cardia.


The (E)-isomer of 3-[(5S,6R)-5,6-dihydroxycyclohexa-1,3-dienyl]acrylic acid.


A 3-[(5R,6S)-5,6-dihydroxycyclohexa-1,3-dienyl]acrylic acid where the acrylic double bond has (E)-configuration.


Partington syndrome

description: A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.


name: rifamycin SV ortho-naphthoquinone carboxamide(2-)

description: Major species at pH 7.3.


hydroxynaphthoquinone

Any naphthoquinone in which the naphthaoquinone moiety is substituted by at least one hydroxy group.


LAPACHOL

A hydroxy-1,4-naphthoquinone that is 1,4-naphthoquinone substituted by hydroxy and 3-methylbut-2-en-1-yl groups at positions 2 and 3, respectively. It is a natural compound that exhibits antibacterial and anticancer properties, first isolated in 1882 from the bark of Tabebuia avellanedae.


Major species at pH 7.3.


A  naphthoquinone that is naphthalene-1,4-dione substituted by hydroxy groups at positions 2, 6 and 7 and a methyl group at position 3. It has been isolated from Penicillium purpurogenum.


atovaquone

A naphthoquinone compound having a 4-(4-chlorophenyl)cyclohexyl group at the 2-position and a hydroxy substituent at the 3-position.


impatienol

A hydroxy-1,4-naphthoquinone that is ethane in which one of the carbons is substituted by two 3-hydroxy-1,4-naphthoquinon-2-yl groups.


rhinacanthin D

A carboxylic ester obtained by the formal condensation of 2-hydroxy-3-(3-hydroxy-2,2-dimethylpropyl)naphthalene-1,4-dione with 1,3-benzodioxole-5-carboxylic acid. Isolated from Rhinacanthus nasutus, it exhibits antiviral activity.


HYPOCRELLIN D

An organic polycyclic compound that is a cytotoxic fungal pigment isolated from the fruiting bodies of the ascomycete Shiraia bambusicola.


aureoquinone

A naphthoquinone that is 1,4-naphthoquinone substituted by hydroxy groups at positions 2, 5, 7,and 8 and methyl groups at positions 3 and 6. It is isolated from surface cultures of Aureobasidium and acts as a protease inhibitor.


FLAVIOLIN

A hydroxy-1,4-naphthoquinone that is 1,4-naphthoquinone having three hydroxy substituents placed at the 2-, 5- and 7-positions.


A hydroxy-1,4-naphthoquinone that is flaviolin in which the hydrogen at position 3 is replaced by a linalyl group.


JUGLONE

A hydroxy-1,4-naphthoquinone that is 1,4-naphthoquinone in which the hydrogen at position 5 has been replaced by a hydroxy group. A plant-derived 1,4-naphthoquinone with confirmed antibacterial and antitumor activities.


phosphatoquinone B

A hydroxy-1,4-naphthoquinone that is 1,4-naphthoquinone substituted by a (2E)-3,7-dimethylocta-2,6-dien-1-yl group at position 2, a methyl group at position 3, and hydroxy groups at positions 5 and 7. It is isolated from the culture broth of Streptomyces sp.TC-0363 and exhibits inhibitory activity against the enzyme protein tyrosine phosphatase.


Any member of the class of 1,4-naphthoquinones in which the naphthoquinone moiety is substituted by at least one hydroxy group.


LAWSONE

1,4-Naphthoquinone carrying a hydroxy function at C-2.  It is obtained from the leaves of Lawsonia inermis.


plumbagin

A  hydroxy-1,4-naphthoquinone that is 1,4-naphthoquinone in which the hydrogens at positions 2 and 5 are substituted by methyl and hydroxy groups, respectively.


A naphthoquinone that is naphthalene-1,4-dione substituted by a hydroxy group and a 2-hydroxyethyl group at positions 2 and 3 respectively.


A hydroxyquinone that is the 2,8-dihydroxy derivative of 1,4-naphthoquinone.


A hydroxy-1,4-naphthoquinone that is 3-methylflaviolin in which the hydroxyl hydrogens at positions 2 and 7 are replaced by methyl and geranyl groups respectively.


A hydroxy-1,4-naphthoquinone that is 2-O-methylflaviolin in which the hydrogens at positions 3 and 6 are replaced by methyl and linalyl groups respectively.


A member of the class of naphthoquinones that is 2-O-methylflaviolin in which the hydrogen at position 3 is  replaced by a methyl group.


name: rifamycin SV para-naphthoquinone carboxamide(2-)

description: Major species at pH 7.3.


NAPHTHAZALIN

A naphthoquinone that is 1,4-naphthoquinone in which the hydrogens at positions 5 and 8 are replaced by hydroxy groups.


rifamycin-undecaketide carboxylic acid

A hydroxy monocarboxylic acid that is an intermediate in the biosynthesis of rifamycin.


Any member of the  class of 1,2-naphthoquinones in which the naphthoquinone moiety is substituted by at least one hydroxy group.


RHINACANTHIN C

A naphthoquinone isolated from Rhinacanthus nasutus and has been shown to exhibit antiviral activity.


A dicarboxylic acid monoamide of glutaric acid containing benzene and oxidopiperidine moieties; a transition state analogue hapten used to elicit catalytic antibodies 5C8 and 14B9.


A piperidine N-oxide having a dimethylphenylsilyl substituent at the 4-position.


name: acetic acid [1-[(3-nitrophenyl)-(1-oxopentylamino)methyl]-2-naphthalenyl] ester


name: regulation of natural killer cell mediated immune response to tumor cell

description: Any process that modulates the frequency, rate, or extent of natural killer cell mediated immune response to a tumor cell.


name: regulation of tolerance induction to tumor cell

description: Any process that modulates the frequency, rate, or extent of tolerance induction to tumor cell.


name: positive regulation of natural killer cell mediated immune response to tumor cell

description: Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immune response to a tumor cell.


name: negative regulation of natural killer cell mediated immune response to tumor cell

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immune response to a tumor cell.


name: regulation of natural killer cell mediated cytotoxicity directed against tumor cell target

description: Any process that modulates the frequency, rate, or extent of natural killer cell mediated cytotoxicity directed against tumor cell target.


name: negative regulation of immune response to tumor cell

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune response to tumor cell.


name: positive regulation of T cell mediated cytotoxicity directed against tumor cell target

description: Any process that activates or increases the frequency, rate, or extent of T cell mediated cytotoxicity directed against a tumor cell target.


name: positive regulation of T cell mediated immune response to tumor cell

description: Any process that activates or increases the frequency, rate, or extent of a T cell mediated immune response to tumor cell.


name: negative regulation of T cell mediated cytotoxicity directed against tumor cell target

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated cytotoxicity directed against a tumor cell target.


name: negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated cytotoxicity directed against tumor cell target.


name: negative regulation of tolerance induction to tumor cell

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction to tumor cell.


name: regulation of T cell mediated immune response to tumor cell

description: Any process that modulates the frequency, rate, or extent of a T cell mediated immune response to tumor cell.


name: positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target

description: Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated cytotoxicity directed against tumor cell target.


name: regulation of immune response to tumor cell

description: Any process that modulates the frequency, rate, or extent of an immune response to tumor cell.


name: regulation of T cell mediated cytotoxicity directed against tumor cell target

description: Any process that modulates the frequency, rate, or extent of T cell mediated cytotoxicity directed against a tumor cell target.


name: negative regulation of T cell mediated immune response to tumor cell

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of a T cell mediated immune response to tumor cell.


name: positive regulation of tolerance induction to tumor cell

description: Any process that activates or increases the frequency, rate, or extent of tolerance induction to tumor cell.


name: positive regulation of immune response to tumor cell

description: Any process that activates or increases the frequency, rate, or extent of an immune response to tumor cell.


glucocorticoid deficiency 4

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.


name: Stage IV Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IV includes: Any T, Any N, M1, Any G, Tumor location: Any.  M1: Distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Esophageal Well Differentiated Squamous Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of prominent keratinization and low mitotic activity.


name: Clinical Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IV includes: IVA: (T4, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4: Tumor invades 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. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage I Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage I includes: T0-2, N0, M0. T0: No evidence of primary tumor. 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.)


name: Cervical Esophagus Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the cervical esophagus.


name: Clinical Stage II Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage II includes: (T2, N0-1, M0); (T3, N0, M0). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage II includes: IIA (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X); IIB (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any).  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0, GN/A, Tumor location: Any. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. GN/A: Grade non-applicable. (AJCC 8th ed.)


name: Stage IB Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IB includes: (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage IB Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IB includes: (T1a, N0, M0, G2-3, Tumor location: Any); (T1b, N0, M0, G1-3, Tumor location: Any); (T1b, N0, M0, GX, Tumor location: Any); (T2, N0, M0, G1, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Stage IIIC Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIIC includes: (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any).  T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  N3: Metastasis in seven or more regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Postneoadjuvant Therapy Stage III Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage III includes: IIIA: (T0-2, N1, M0); IIIB: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or 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. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage I Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage I includes: IA (T1, N0, M0, G1, GX, Tumor location: Any); IB (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Esophageal Squamous Cell Carcinoma by AJCC v7 Stage

description: A term that refers to the staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 7th edition.


name: Pathologic Stage IA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IA includes: (T1a, N0, M0, G1, Tumor location: Any); (T1a, N0, M0, GX, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)


name: Clinical Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIA includes: (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Refractory Esophageal Squamous Cell Carcinoma

description: Esophageal squamous cell carcinoma that is resistant to treatment.


name: Pathologic Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IV includes: IVA: (T4a, N2, M0, Any G, Tumor location: Any); (T4b, N0-2, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any); IVB: (Any T, Any N, M1, Any G, Tumor location: Any). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. 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. M1: Distant metastasis. (AJCC 8th ed.)


name: Metastatic Esophageal Squamous Cell Carcinoma

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


name: Pathologic Stage IIA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIA includes: (T2, N0, M0, G2-3, Tumor location: Any); (T2, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Lower); (T3, N0, M0, G1, Tumor location: Upper/middle). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Alcohol-Related Esophageal Squamous Cell Carcinoma

description: An esophageal carcinoma that results from alcohol consumption.  The alcohol-related esophageal carcinomas are always of squamous cell type.  There is no association between alcohol consumption and esophageal adenocarcinomas.


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Postneoadjuvant Therapy Stage

description: A term that refers to the postneoadjuvant therapy staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


name: Unresectable Esophageal Squamous Cell Carcinoma

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


name: Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIIB includes: T3, N2, M0, Any G, Tumor location: Any. T3: Tumor invades adventitia. N2: Metastasis in 3-6 regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Clinical Stage III Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage III includes: (T3, N1, M0); (T1-3, N2, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. 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.)


name: Postneoadjuvant Therapy Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8


name: Esophageal Poorly Differentiated Squamous Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of basal-like malignant squamous cells that form nests, often associated with central necrosis.


name: Advanced Esophageal Squamous Cell Carcinoma

description: Esophageal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment


name: Clinical Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IIB Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIB includes: (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any).  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  M0: No distant metastasis.  G2: Moderately differentiated.  G3: Poorly differentiated.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Thoracic Esophagus Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the thoracic esophagus.


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Pathologic Stage

description: A term that refers to the pathologic staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma

description: An esophageal squamous cell carcinoma that arises from squamous epithelial cells infected with human papillomavirus.


name: Pathologic Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IVA includes: (T4a, N2, M0, Any G, Tumor location: Any); (T4b, N0-2, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. 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.)


name: Clinical Stage I Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage I includes: T1, N0-1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIIA includes: (T1, N2, M0, Any G, Tumor location: Any); (T2, N1, M0, Any G, Tumor location: Any). 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. M0: No distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage II Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage II includes: T3, N0, M0. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Distal Esophagus Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the distal esophagus.


name: Locally Advanced Esophageal Squamous Cell Carcinoma

description: Esophageal squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Esophageal Carcinoma Cuniculatum

description: An extremely rare, well-differentiated squamous cell carcinoma that arises from the esophagus. It is characterized by the presence of hyperkeratosis, acanthosis, dyskeratosis, keratin-filled cysts, koilocyte-like cells, intraepithelial neutrophils, and focal cytologic atypia.


name: Stage IA Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IA includes: T1, N0, M0, G1, GX, Tumor location: Any. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage IIIA includes: (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIIB includes: (T2, N2, M0, Any G, Tumor location: Any); (T3, N1-2, M0, Any G, Tumor location: Any); (T4a, N0-1, M0, Any G, Tumor location: Any). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or 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. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0 Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage 0 includes: Tis (HGD), N0, M0, G1, GX, Tumor location: Any.  Tis: High-grade dysplasia.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G1: Well differentiated.  GX: Grade cannot be assessed-stage grouping as G1.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Postneoadjuvant Therapy Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IVA includes: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. 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.)


name: Clinical Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IVA includes: (T4, N0-2, M0); (Any T, N3, M0). T4: Tumor invades 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. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIB Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIB includes: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IIIA includes: T0-2, N1, M0. T0: No evidence of primary tumor. 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. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage III Esophageal Squamous Cell Carcinoma AJCC v7

description: Stage III includes: IIIA (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any); IIIB (T3, N2, M0, Any G, Tumor location: Any); IIIC (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any).  T1: Tumor invades lamina propria, muscularis mucosae, or submucosa.  T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N0: No regional lymph node metastasis.  N1: Metastasis in 1-2 regional lymph nodes.  N2: Metastasis in 3-6 regional lymph nodes.  N3: Metastasis in seven or more regional lymph nodes.  M0: No distant metastasis.  Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus.  (AJCC 7th ed.)


name: Pathologic Stage III Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage III includes: IIIA: (T1, N2, M0, Any G, Tumor location: Any); (T2, N1, M0, Any G, Tumor location: Any); IIIB: (T2, N2, M0, Any G, Tumor location: Any); (T3, N1-2, M0, Any G, Tumor location: Any); (T4a, N0-1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or 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. M0: No distant metastasis. (AJCC 8th ed.)


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Stage

description: A term that refers to the staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage II Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage II includes: IIA: (T2, N0, M0, G2-3, Tumor location: Any); (T2, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Lower); (T3, N0, M0, G1, Tumor location: Upper/middle); IIB: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Esophageal Squamous Cell Carcinoma by AJCC v8 Clinical Stage

description: A term that refers to the clinical staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Postneoadjuvant Therapy Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage IV includes: IVA: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. 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. M1: Distant metastasis. (AJCC 8th ed.)


Esophageal Spindle Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of a spindle-cell carcinomatous component.  Crossly it has a polypoid appearance and usually arises from the middle or lower third of the esophagus.


name: Esophageal Moderately Differentiated Squamous Cell Carcinoma

description: An esophageal squamous cell carcinoma characterized by the presence of variable morphologic characteristics that include areas of prominent and poor keratinization.


name: Pathologic Stage I Esophageal Squamous Cell Carcinoma AJCC v8

description: Stage I includes: IA: (T1a, N0, M0, G1, Tumor location: Any); (T1a, N0, M0, GX, Tumor location: Any); IB: (T1a, N0, M0, G2-3, Tumor location: Any); (T1b, N0, M0, G1-3, Tumor location: Any); (T1b, N0, M0, GX, Tumor location: Any); (T2, N0, M0, G1, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: idiopathic hypersomnia with long sleep time

description: Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.


gonad development

description: The process whose specific outcome is the progression of the gonad over time, from its formation to the mature structure. The gonad is an animal organ that produces gametes; in some species it also produces hormones.


Senior-Loken syndrome 5

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.


A hydroxy ketone ascaroside obtained by obtained by formal condensation of the 23-hydroxy group of (23R)-23-hydroxytetracosan-2-one with ascarylopyranose (the alpha-anomer). It is a metabolite of the nematode Caenorhabditis elegans.


platelet dense granule organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a platelet dense granule. A platelet dense granule is an electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins.


The O-acyl carbohydrate that is L-arabinofuranose trans-feruloylated at position 5.


polyphosphate catabolic process

description: The chemical reactions and pathways resulting in the breakdown of a polyphosphate, the anion or salt of polyphosphoric acid.


trimetaphan

A complex heterocyclic sulfonium compound with an imidazolium core, used to treat hypertension.


valerate ester

A carboxylic ester obtained by formal condensation of the carboxy group of valeric (pentanoic) acid with the hydroxy group of any alcohol or phenol.


VALERYL SALYCILATE

A valerate ester that is salicylic acid in which the phenolic hydrogen is replaced by a valeryl (pentanoyl) group.


A sialodiosylceramide consisting of the tetrasaccharide alpha-Neu5NGc-(2->8)-alpha-Neu5NGc-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc attached to the primary hydroxy function of ceramide.


name: Stage IA Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8

description: Stage IA includes: T1 or T2, N0, M0, Low Mitotic Rate. T1: Tumor measuring 2 cm or less. T2: Tumor measuring more than 2 cm but not more than 5 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)


prophage integrase activity

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

description: Catalysis of the integration of prophage DNA into a target DNA molecule, usually a bacterial chromosome, via a sequence-specific recombination event which involves the formation of an intasome, a DNA-protein-complex designed for site-specific recombination of the phage and host DNA.


fallopian tube teratoma

description: A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.


fallopian tube germ cell tumor

description: A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.


fallopian tube benign neoplasm

description: A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.


fallopian tube leiomyoma

description: A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


cancer of isthmus of fallopian tube

description: A cancer that involves the UBERON:0016632.


fallopian tube leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells.


fallopian tube cancer

description: A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma.


fallopian tube adenosarcoma

description: An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.


fallopian tube endometrioid tumor

description: A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.


aldotetrose derivative

An aldose derivative that is formally obtained from an aldotetrose.


erythrose derivative

An aldotetrose derivative that is formally obtained from erythrose.


threose derivative

An aldotetrose derivative that is formally obtained from threose.


peroxisome organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules.


vesicle fusion with peroxisome

description: The joining of the lipid bilayer membrane around a vesicle with the lipid bilayer membrane around the peroxisome.


name: establishment of protein localization to peroxisome

description: The directed movement of a protein to a specific location in a peroxisome.


ER-dependent peroxisome organization

description: A process of peroxisome organization in which assembly or arrangement of constituent parts takes place in the endoplasmic reticulum.


protein localization to peroxisome

description: A process in which a protein is transported to, or maintained at, a location in a peroxisome.


glyoxysome organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the glyoxysome. A glyoxysome is a microbody that contains the enzymes of the glyoxylate pathway.


protein targeting to peroxisome

description: The process of directing proteins towards the peroxisome, usually using signals contained within the protein.


peroxisome inheritance

description: The acquisition of peroxisomes by daughter cells from the mother cell after replication. In Saccharomyces cerevisiae, the number of peroxisomes cells is fairly constant; a subset of the organelles are targeted and segregated to the bud in a highly ordered, vectorial process. Efficient segregation of peroxisomes from mother to bud is dependent on the actin cytoskeleton, and active movement of peroxisomes along actin filaments is driven by the class V myosin motor protein, Myo2p.


ER-dependent peroxisome localization

description: A process in which a protein is transported to, or maintained at, a location in a peroxisome via the endoplasmic reticulum.


Conjugate base of bkas#18


Demodex folliculitis

description: A demodicidosis that involves the hair follicle.


demodicidosis

description: Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.


demodicidosis of sebaceous gland

description: A demodicidosis that involves the sebaceous gland.


QUINMERAC

A quinolinemonocarboxylic acid that is quinoline-8-carboxylic acid carrying additional methyl and chloro substituents at positions 3 and 7 respectively. A residual herbicide used to control broad-leaved weeds on a range of crops including cereals, rape and beet.


silicon-32 atom

The radioactive isotope of silicon with relative atomic mass 31.974148. The longest-lived silicon radionuclide with half-life of 172 years.


silicon-28 atom

The stable isotope of silicon with relative atomic mass 27.9769265. The most abundant (92.23 atom percent) isotope of naturally occurring silicon.


silicon-29 atom

The stable isotope of silicon with relative atomic mass 28.9764947, 4.683 atom percent natural abundancy, and nuclear spin (1)/2.


silicon-30 atom

The stable isotope of silicon with relative atomic mass 29.9737702. The least abundant (3.09 atom percent) isotope of naturally occurring silicon.


Mold or Dust Allergy

description: An allergic reaction triggered by exposure to airborne allergens expressed by dust mites or molds.


hypersensitivity reaction disease

description: An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.


Cat allergy (disorder)

description: An allergic reaction triggered by exposure to allergens expressed by cats, includes allergenic factors found in feline saliva and dander.


type IV hypersensitivity disease

description: A disease that has its basis in the disruption of type IV hypersensitivity.


Processed Food Allergy

description: An allergic reaction triggered by exposure to allergens found in processed foods.


Shellfish allergy

description: An allergic reaction triggered by exposure to allergens found in foods containing molluscs, crustaceans or echinoderms.


Dog Allergy

description: An allergic reaction triggered by exposure to allergens expressed by dogs, includes allergenic factors found in canine saliva and dander.


Venomous Ant Bite Allergy

description: An allergic reaction triggered by exposure to ant venom, usually as a result of being bitten by a fire ant (Solenopsis spp.).


Allergy to fruit

description: An allergic reaction triggered by exposure to foodborne allergens found in fruit.


type III hypersensitivity disease

description: Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.


serum sickness

description: Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.


food allergy

description: Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.


Allergy to bee venom

description: An allergic reaction triggered by being exposed to bee venom following a bee sting.


Contact hypersensitivity

description: Contact hypersensitivity is an inflammatory response induced by antigen-reactive T cells that are exposed to antigen on the skin surface (epidermis).  Poison ivy is a frequent cause of such reactivity, due to the urushiol from the plant, as are a variety of antigens derived from industrial exposure (e.g. rubber, chromate, nickel).  These antigens induce the appearance of Th1-like T cells, which presumably produce IFN to activate macrophages.


Wasp Sting Allergy

description: An allergic reaction triggered by being exposed to wasp venom following a wasp sting.


Dairy or Lactose Intolerance Allergy

description: An allergic reaction triggered by exposure to allergens found in foods containing lactose or other dairy components.


name: Hypersensitivity reaction mediated by antibody

description: A hypersensitivity reaction mediated by antibodies formed against cell surface antigens.


Blast Phase Myeloproliferative Neoplasm

description: Transformation of a myeloproliferative neoplasm into acute myeloid leukemia, typically via accelerated phase myeloproliferative neoplasm. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.


name: blast phase chronic myelogenous leukemia, BCR-ABL1 positive

description: An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).


Blast Phase Primary Myelofibrosis

description: Transformation of primary myelofibrosis into acute myeloid leukemia, typically via accelerated phase primary myelofibrosis. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.


Kasabach-Merritt syndrome

description: Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.


gonococcal synovitis

description: An synovitis (disease) caused by infection with Neisseria gonorrhoeae.


gonococcal infection of joint

description: Arthritis caused by bacterial infection with Neisseria gonorrhoeae.


sclerema neonatorum

description: A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.


TTP biosynthetic process

description: The chemical reactions and pathways resulting in the formation of TTP, ribosylthymine triphosphate.


AGIGENIN

An oxaspiro compound that is (25R)-5alpha-spirostan substituted by hydroxy groups at positions 2, 3 and 6 (the 2alpha,3beta,6beta stereoisomer).


cellular response to dopamine

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


name: Stage IB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


BUTOPAMINE

A 4-(1-hydroxy-2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)phenol in which both stereocentres have R configuration. It is the most active of the four diastereoisomers that make up the animal feed additive ractopamine.


imazapic

A racemate comprising equimolar amounts of (R)- and (S)-imazapic. It is a selective imidazolinone herbicide for pre- and post-emergent control of some annual and perennial grasses and broadleaf weeds. It kills plants by inhibiting the activity of the enzyme acetohydroxy acid synthase (AHAS).


A glycopentaosylceramide having alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc as the pentasaccharide component.


tris(2-butoxyethyl) phosphate

A trialkyl phosphate in which the alkyl group specified is 2-butoxyethyl.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


alpha-mannosidosis

description: Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.


beta-mannosidosis

description: Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.


oleoyl-lysophosphatidylcholine

An oleoyl-sn-glycero-3-phosphocholine in which the acyl group at position 1 is (9Z)-octadecenoyl (oleoyl) and the hydroxy group at position 2 is unsubstituted.


A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at either position 1 or 2.


A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at position 2.


A zwitterion obtained by transfer of a proton from the phospho to the amino group of phosphatidyl-N,N-dimethylethanolamine; major species at pH 7.3.


petiolaroside

A  quercetin O-glucoside that is  quercetin attached to beta-D-glucopyranosyl residue at position 3 and a alpha-L-rhamnopyranosyl residue at position 7 via glycosidic linkages. Isolated from the aerial parts of Delphinium staphisagria, it exhibits trypanocidal activity.


name: anemia, nonspherocytic hemolytic, due to G6PD deficiency

description: Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


name: anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane


name: anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism


name: heritable pulmonary arterial hypertension

description: Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.


ECHINULIN

An indole alkaloid with formula C29H39N3O2. It is a fungal metabolite found in several Aspergillus species.


3-methylbut-2-enoic acid

A methyl-branched fatty acid that is but-2-enoic acid bearing a methyl substituent at position 3.


denitrification pathway

description: The reduction of nitrate to dinitrogen by four reactions; each intermediate is transformed to the next lower oxidation state; also part of cellular bioenergetics; the nitrogen compounds can serve as terminal acceptors for electron transport phosphorylation in place of oxygen.


folic acid deficiency anemia

description: Anemia caused by folate deficiency.


amino sulfonic acid

An organosulfonic acid containing one or more amino groups.


A Good's buffer substance, pKa = 6.9 at 20 degreeC.


metamizole

A pyrazole that is antiipyrine substituted at C-4 by a methyl(sulfomethyl)amino group, the sodium salt of which, metamizole sodium, was widely used as a powerful analgesic and antipyretic, but withdrawn from many markets from the 1970s due to a risk of causing risk of causing agranulocytosis.


D-homocysteic acid

A homocysteic acid with D-configuration.


L-cysteic acid

The L-enantiomer of cysteic acid.


colistimethate A

Colistin A in which each of the primary amino groups is converted to the corresponding aminomethanesulfonic acid, commonly by the action of formaldehyde followed by sodium bisulfite.


sulfamazone

A racemate comprising equimolar amounts of (R)- and (S)-sulfamazone. An antibacterial agent that antipyretic activity, it has been used (generally as its sodium salt) for the treatment of infections of the upper respiratory tract.


A Good's buffer substance, pKa = 7.15 at 20 degreeC.


NSC 56820

An amino sulfonic acid that is 4-[(4-methylenecyclohexa-2,5-dien-1-ylidene)amino]benzenesulfonic acid in which the hydrogens of the methylene group are replaced by 4-amino-3-methyl-5-sulfophenyl and 4-[(4-sulfophenyl)amino]phenyl groups. The disodium salt is the biological stain C.I. Acid Blue 22, also known as water blue.


(S)-sulfamazone

A (1,5-dimethyl-3-oxo-2-phenyl-2,3-dihydro-1H-pyrazol-4-yl){4-[(6-methoxypyridazin-3-yl)sulfamoyl]anilino}methanesulfonic acid that has S configuration at the chiral centre.


(R)-sulfamazone

A (1,5-dimethyl-3-oxo-2-phenyl-2,3-dihydro-1H-pyrazol-4-yl){4-[(6-methoxypyridazin-3-yl)sulfamoyl]anilino}methanesulfonic acid that has R configuration at the chiral centre.


cysteic acid

An amino sulfonic acid that is the sulfonic acid analogue of cysteine.


L-homocysteic acid

A homocysteic acid with L-configuration.


homocysteic acid

A non-proteinogenic alpha-amino acid that is homocysteine in which the thiol group has benn oxidised to the corresponding sulfonic acid.


colistimethate B

Colistin B in which each of the primary amino groups is converted into the corresponding aminomethanesulfonic acid, commonly by the action of formaldehyde followed by sodium bisulfite.


A Good's buffer substance, pKa = 7.5 at 20 degreeC.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by a cysteinyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by an asparaginyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by an aspartyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by a seryl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by a glycyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by an alanyl group.


A glycosylphosphatidylinositolethanolamine in which the nitrogen is substituted by a threonyl group.


octopamine receptor activity

description: Combining with the biogenic amine octopamine to initiate a change in cell activity. Octopamine is found in both vertebrates and invertebrates and can have properties both of a hormone and a neurotransmitter and acts as an adrenergic agonist.


Childhood Acute Eosinophilic Leukemia

description: An acute eosinophilic leukemia occurring in children.


TRICHLOROETHANE

A member of the class of chloroethanes that is ethane substituted by chloro groups at positions 1, 1 and 2.


trisomy 8q

description: Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.


chromosome 8 disorder

description: Chromosomal disorder in which chromosome 8 is affected.


name: partial duplication of the short arm of chromosome 8

description: Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


chromosome 8, trisomy

description: A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.


name: chromosome 8Q12.1-q21.2 deletion syndrome


monosomy chromosome 8

description: A chromosomal disorder consisting of the absence of one chromosome 8.


8q22.1 microdeletion syndrome

description: The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.


8p23.1 duplication syndrome

description: 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).


name: partial deletion of the long arm of chromosome 8

description: Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


8p23.1 microdeletion syndrome

description: 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.


distal trisomy 8q

description: Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).


name: partial deletion of the short arm of chromosome 8

description: Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


name: partial duplication of the long arm of chromosome 8


mesomelia-synostoses syndrome

description: A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.


mosaic trisomy 8

description: Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.


chromosome 8q21.11 deletion syndrome

description: Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.


8p11.2 deletion syndrome

description: 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.


8q12 microduplication syndrome

description: The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.


name: 8p inverted duplication/deletion syndrome

description: 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.


trisomy 8p

description: Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.


CIC-rearranged sarcoma

description: An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.


Childhood CIC-Rearranged Sarcoma

description: A CIC-rearranged sarcoma that occurs during childhood.


name: Central Nervous System CIC-Rearranged Sarcoma

description: A rare, undifferentiated, high grade small round cell sarcoma that arises from the central nervous system. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 resulting in CIC gene fusion with different gene partners.


CIC-DUX4L Sarcoma

description: An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4L gene on chromosome 10. The translocation results in CIC-DUX4L, t(10;19)(q26;q13) fusions.


name: sporadic adult-onset ataxia of unknown etiology

description: Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.


name: hypogonadotropic hypogonadism 13 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.


name: craniosynostosis arthrogryposis cleft palate


osteoarthritis, pig

description: Osteoarthritis that occurs in pig.


baclofen withdrawal syndrome

description: Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.


name: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

description: The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.


retinal detachment, horse

description: Retinal detachment that occurs in horse.


name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

description: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.


acute pharyngitis

description: An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.


benign melanocytic skin nevus

description: A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.


name: NTHL1-deficiency tumor predisposition syndrome

description: Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.


name: breast cancer, familial, susceptibility to, 1


acquired ichthyosis

description: Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.


abducens nerve palsy

description: Paralysis of the abducens nerve.


name: corneal degeneration, ribbonlike, with deafness


classic congenital adrenal hyperplasia

description: A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.


brittle cornea syndrome 2

description: Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.


Guillain-Barre syndrome, familial

description: A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.


name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


associative visual agnosia

description: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.


name: polydactyly of an index finger, unilateral


name: congenital generalized lipodystrophy type 1

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.


Krabbe disease, non-human animal

description: Krabbe disease that occurs in non-human animals.


pedophilia

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.


renal dysplasia, cattle

description: Renal dysplasia that occurs in cattle.


urolithiasis, non-human animal

description: Urolithiasis that occurs in non-human animals.


inflammatory disease

description: A disease involving a pathogenic inflammatory response in the anatomical structure.


name: intellectual disability, autosomal recessive 29


name: polyps, multiple and recurrent inflammatory fibroid, gastrointestinal


necrotizing sialometaplasia

description: A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.


dendritic cell sarcoma

description: A sarcoma that involves the dendritic cell.


simple cryoglobulinemia

description: Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.


cyanide-induced parkinsonism

description: Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.


name: autosomal recessive non-syndromic intellectual disability

description: Autosomal recessive form of non-syndromic intellectual disability.


trisomy 21

description: A chromosomal disorder consisting of the presence of an extra chromosome 21.


name: mirror movements 1 and/or agenesis of the corpus callosum

description: A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).


5-fluorouracil poisoning

description: 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.


Flaviviridae infectious disease

description: Infections with viruses of the family flaviviridae.


name: endometrioid stromal and related neoplasms

description: A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.


name: short stature with microcephaly and distinctive facies


panic disorder without agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.


prostate neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.


Al Gazali Khidr Prem Chandran syndrome

description: A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: cleft lip with or without cleft palate, dog

description: Cleft lip with or without cleft palate that occurs in dog.


acute quadriplegic myopathy

description: Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.


oculomotor nerve neoplasm

description: A neoplasm involving a oculomotor nerve.


name: angiokeratoma corporis diffusum with arteriovenous fistulas


haemophilus meningitis

description: Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.


nonsyndromic congenital nail disorder 1

description: Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails.


ankylosing spondylitis

description: An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.


name: recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

description: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.


seminal vesicle tumor

description: A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.


precocious puberty, central, 2

description: Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.


retinal degeneration, non-human animal

description: Retinal degeneration that occurs in non-human animals.


infiltrating angiolipoma

description: An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.


name: radiation sensitivity/chromosome instability syndrome, autosomal dominant


hemi-myeloschisis

description: A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis.


name: malignant migrating partial seizures of infancy

description: A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.


name: hereditary sensory and autonomic neuropathy

description: An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.


Lewis-Sumner syndrome

description: A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.


name: autosomal recessive congenital ichthyosis 4A

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.


name: cardiomyopathy associated with myopathy and sudden death


late latent syphilis

description: Latent syphilis when infection was acquired more than twelve months previously.


NAA10-related syndrome

description: Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.


vernal keratoconjunctivitis

description: Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

description: A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.


bullous lichen planus

description: Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.


description: Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.


protoporphyria, cattle

description: Protoporphyria that occurs in cattle.


name: intellectual disability, autosomal recessive 58

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.


IFT140-related recessive ciliopathy

description: Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.


hypertension, pregnancy-induced

description: A hypertensive disorder that develops during pregnancy.


hyperlipoproteinemia, type 1D

description: Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.


name: megalencephalic leukoencephalopathy with subcortical cysts 1


name: pelvic dysplasia-arthrogryposis of lower limbs syndrome


name: early T cell progenitor acute lymphoblastic leukemia

description: T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.


UROD-related inherited porphyria

description: Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.


allergic bronchopulmonary aspergillosis

description: Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.


endocrine tuberculosis

description: Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.


uterine corpus carcinofibroma

description: An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.


name: non-recovering obstetric brachial plexus lesion


name: complete atrioventricular canal-tetralogy of fallot syndrome


orbital dermoid cyst

description: A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.


name: spastic paraplegia 80, autosomal dominant


name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


disorder of gluconeogenesis

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


vascular parkinsonism

description: A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.


focal segmental glomerulosclerosis 9

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.


name: congenital anomalies of kidney and urinary tract 3


name: intellectual developmental disorder, autosomal dominant 72

description: An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.


hypoglossal nerve disorder

description: A disease involving the hypoglossal nerve.


eccrine acrospiroma

description: A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.


name: lymphoma, Hodgkin, Y-linked pseudoautosomal


Reynolds syndrome

description: An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).


monosomy 21

description: Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.


name: congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies

description: Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.


name: growth delay due to insulin-like growth factor type 1 deficiency

description: Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.


name: familial hyperinflammatory lymphoproliferative immunodeficiency


name: lissencephaly spectrum disorder with complex brainstem malformation

description: A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).


epicondylitis

description: Inflammation of the lateral epicondyle.


WT limb-blood syndrome

description: WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.


fetal akinesia deformation sequence 1

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.


sciatic neuropathy

description: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)