Ovarian Leiomyoma

description: A benign smooth muscle neoplasm arising from the ovary. It is usually characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Variants with increased cellularity, increased mitotic activity, myxoid changes, or epithelioid morphology have also been reported.


ovarian benign neoplasm

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

description: A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.


name: Refractory Ovarian Mucinous Adenocarcinoma

description: Ovarian mucinous adenocarcinoma that is resistant to treatment.


name: Stage IV Childhood Ovarian Germ Cell Tumor by Toronto Guidelines v2

description: Distant metastasis (excludes peritoneal metastases). (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)


Ovarian Signet Ring Cell Carcinoma

description: An extremely rare adenocarcinoma that arises from the ovary. It is characterized by the presence of signet ring malignant epithelial cells.


Ovarian Leydig Cell Tumor

description: An ovarian Leydig cell tumor for which the site of origin (ovarian hilus or ovarian stroma) cannot be determined.


name: Recurrent Ovarian Seromucinous Carcinoma

description: The reemergence of ovarian seromucinous carcinoma after a period of remission.


Stage IIC Ovarian Cancer AJCC v6 and v7

description: Stage IIC includes: T2c, N0, M0.  T2c: Pelvic extension and/or implants (T2a or T2b) with malignant cells in ascites or peritoneal washing.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Recurrent Platinum-Resistant Ovarian Carcinoma

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


Recurrent Ovarian Germ Cell Tumor

description: The reemergence of ovarian germ cell tumor after a period of remission.


Stage IA Ovarian Cancer

description: Stage IA includes: T1a, N0, M0.  T1a: Tumor limited to one ovary; capsule intact, no tumor on ovarian surface.  No malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Borderline Ovarian Endometrioid Tumor/Atypical Proliferative Ovarian Endometrioid Tumor with Microinvasion

description: A low grade ovarian epithelial neoplasm characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. Microinvasion of the ovarian stroma is present.


name: Locally Advanced Platinum-Resistant Ovarian Carcinoma

description: Platinum-resistant ovarian carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Ovarian Cancer by AJCC v6 and v7 Stage

description: A category of staging terms for ovarian cancer according to the American Joint Committee on cancer (AJCC) 6th and 7th editions. International Federation of Gynecology and Obstetrics (FIGO) ovarian cancer staging terms prior to 2014 are included in this category if synonymous with the AJCC terms.


name: Stage II Ovarian Dysgerminoma 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: Refractory Ovarian Undifferentiated Carcinoma

description: Ovarian undifferentiated carcinoma that is resistant to treatment.


name: Metastatic Ovarian Undifferentiated Carcinoma

description: Ovarian undifferentiated carcinoma that has spread from its original site of growth to another anatomic site.


name: Recurrent Ovarian Endometrioid Adenocarcinoma

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


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

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


name: Childhood Ovarian Sertoli-Leydig Cell Tumor

description: An ovarian Sertoli-Leydig cell tumor that occurs during childhood.


ovarian germ cell tumor

description: A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.


Ovarian stromal hyperplasia

description: A non-neoplastic disorder that usually affects postmenopausal women.  It is characterized by proliferation of ovarian stromal cells without evidence of atypia.  There is usually bilateral ovarian involvement.  The ovaries may or may not be enlarged.


FIGO Stage IC2 Ovarian Cancer

description: Stage IC ovarian cancer with capsule rupture before surgery or tumor on ovarian surface. (FIGO, 2014)


ovary leiomyosarcoma

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


Lipid cell tumor of ovary

description: An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course.


name: Metastatic Microsatellite Stable Ovarian Carcinoma

description: Microsatellite stable ovarian carcinoma that has spread from its original site of growth to another anatomic site.


Borderline Ovarian Endometrioid Tumor

description: A rare, low grade ovarian epithelial neoplasm characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells.


FIGO Stage IC3 Ovarian Cancer

description: Stage IC ovarian cancer with malignant cells in the ascites or peritoneal washings. (FIGO, 2014)


name: Stage IV Ovarian Dysgerminoma AJCC v6 and v7


Stage IC Ovarian Cancer AJCC v8

description: Stage IC includes: T1c, N0, M0. T1c: Ovarian cancer with tumor limited to one or both ovaries, with any of the following: surgical spill, capsule ruptured before surgery or tumor on ovarian surface, or malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Ovarian Sclerosing Stromal Tumor

description: A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities.


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

description: Stage IA includes: (T1a, N0, M0). T1a: Tumor limited to one ovary; capsule intact, no tumor on ovarian surface.  No malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


name: Metastatic Platinum-Resistant Ovarian Carcinoma

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


FIGO Stage IVB Ovarian Cancer

description: Ovarian cancer with hepatic and/or splenic parenchymal metastasis, metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside of the abdominal cavity). (FIGO, 2014)


Benign Ovarian Clear Cell Tumor

description: A non-metastasizing neoplasm that arises from the ovary. It is characterized by a predominance of clear and hobnail benign epithelial cells.


name: Metastatic Platinum-Refractory Ovarian Carcinoma

description: Platinum-refractory ovarian carcinoma that has spread from its original site of growth to another anatomic site.


name: Recurrent Ovarian Clear Cell Adenocarcinoma

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


name: Metastatic Ovarian Mucinous Adenocarcinoma

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


name: Ovarian Steroid Cell Tumor, Not Otherwise Specified

description: A steroid cell tumor that arises from the ovary and is defined by morphologic features that do not fit into the categories of Leydig cell tumor and stromal luteoma.  These features include solid proliferations of polygonal neoplastic cells with eosinophilic and granular cytoplasm.  Grossly, these tumors usually present as large and well circumscribed masses and are usually associated with androgenic manifestations.  Approximately one third of the cases have a malignant clinical course.


Stage IB Ovarian Cancer AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Ovarian cancer with tumor limited to one or both ovaries (capsules intact); no tumor on ovarian surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Refractory Ovarian Carcinoma

description: Ovarian carcinoma that is resistant to treatment.


name: Stage I Ovarian Polyembryoma AJCC v6 and v7

description: Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


Ovarian Granulosa-Stromal Cell Tumor

description: A group of sex cord-stromal tumors that arise from the ovary.  These tumors are characterized by the presence of granulosa cells, stromal cells, and/or theca cells.  This group includes granulosa cell tumor and tumors of the thecoma/fibroma group.


ovarian melanoma

description: A melanoma (disease) that involves the ovary.


name: Refractory Ovarian Endometrioid Adenocarcinoma

description: Ovarian endometrioid adenocarcinoma that is resistant to treatment.


Ovarian Neuroectodermal-Type Tumor

description: A rare ovarian malignant tumor with neuroectodermal differentiation. It is characterized either by a small round cell proliferation or by neuronal or glial differentiation.


name: Sertoli-Leydig cell tumor, intermediate differentiation, with heterologous elements

description: An ovarian Sertoli-Leydig cell tumor of intermediate differentiation, characterized by the presence of a heterologous component, usually consisting of cartilage, skeletal muscle, or rhabdomyosarcoma.


Childhood Benign Ovarian Neoplasm

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


Ovarian epithelial cancer stage II

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: Localized Childhood Ovarian Germ Cell Tumor by Toronto Guidelines v2

description: Tumor confined to ovaries. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)


malignant germ cell tumor of ovary

description: Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.


name: Borderline Ovarian Serous Tumor-Micropapillary Variant/Non-Invasive Low Grade Ovarian Serous Carcinoma

description: A non-invasive serous neoplasm that arises from the ovary and shows micropapillary and/or cribriform architectural patterns.  It is composed of round epithelial cells with scant cytoplasm and moderate nuclear atypia.


name: Stage IV Ovarian Yolk Sac Tumor AJCC v6 and v7

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


name: Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor, Variant with Heterologous Elements

description: An ovarian poorly differentiated Sertoli-Leydig cell tumor. It is characterized by the presence of a heterologous component, usually consisting of cartilage, skeletal muscle, or rhabdomyosarcoma.


name: High Grade Ovarian Endometrioid Adenocarcinoma

description: Ovarian endometrioid adenocarcinoma exhibiting more than 50% solid non-glandular, non-squamous growth.


name: Well Differentiated Ovarian Sertoli-Leydig Cell Tumor

description: A Sertoli-Leydig tumor of the ovary characterized by the presence of Sertoli cells in tubules without evidence of significant nuclear atypia or mitotic activity. Primitive gonadal stromal cells are not present. It usually follows a benign clinical course.


ovarian endometrioid adenofibroma

description: A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma.


Stage IIIA2 Ovarian Cancer AJCC v8

description: Stage IIIA2 includes: T3a, N0/N1, M0. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


name: Stage I Ovarian Yolk Sac Tumor AJCC v6 and v7

description: Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


name: Ovarian Retiform Sertoli-Leydig Cell Tumor, Variant with Heterologous Elements

description: A retiform Sertoli-Leydig cell tumor that arises from the ovary. It is characterized by the presence of an epithelial and/or mesenchymal heterologous component.


undifferentiated sarcoma of ovary

description: An aggressive high grade sarcoma that arises from the ovary.  It is characterized by the presence of marked pleomorphism and nuclear atypia in the neoplastic mesenchymal cells.  The prognosis is poor.


Stage IIIA1 Ovarian Cancer AJCC v8

description: Stage IIIA1 includes: T1/2, 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. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


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

description: Stage IIC includes: T2c, N0, M0. T2c: Pelvic extension and/or implants (T2a or T2b) with malignant cells in ascites or peritoneal washing. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Ovarian Leydig Cell Tumor, Non-Hilar Type

description: A Leydig cell tumor that arises from the ovarian stroma.


Benign thecoma

description: A thecoma of the ovary that does not metastasize to other anatomic sites.


name: Borderline Ovarian Mucinous Tumor, Intestinal Type

description: A neoplasm of low malignant potential arising from the ovary.  It is characterized by the proliferation of neoplastic mucinous epithelial cells that resemble intestinal epithelial cells.  There is no evidence of stromal invasion.


ovarian sarcoma

description: A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.


FIGO Stage III Ovarian Cancer

description: Ovarian cancer involving 1 or both ovaries with cytologically or histologically confirmed spread to the peritoneum outside the pelvis and/or metastasis to the retroperitoneal lymph nodes. (FIGO, 2014)


name: Ovarian Sertoli-Leydig Cell Tumor Molecular Subtypes

description: A term that refers to the classification of ovarian Sertoli-Leydig cell tumors according to their molecular characteristics.


FIGO Stage II Ovarian Cancer

description: Ovarian cancer involving one or both ovaries with pelvic extension (below the pelvic brim) or primary peritoneal cancer. (FIGO, 2014)


name: Stage I Ovarian Embryonal Carcinoma AJCC v6 and v7


Advanced Ovarian Carcinosarcoma

description: Ovarian carcinosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Recurrent Extrarenal Rhabdoid Tumor of the Ovary

description: The reemergence of extrarenal rhabdoid tumor of the ovary after a period of remission.


Extrarenal Rhabdoid Tumor of the Ovary

description: An extrarenal rhabdoid tumor affecting the ovary.


name: Stage III Ovarian Embryonal Carcinoma 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.)


adenocarcinofibroma

description: A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma.


name: Stage III Borderline Ovarian Surface Epithelial-Stromal Tumor

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


name: Stage II Ovarian Germ Cell Tumor 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: Recurrent Ovarian Mucinous Adenocarcinoma

description: The reemergence of ovarian mucinous adenocarcinoma after a period of remission.


Acquired Ovarian Failure

description: Ovarian failure, the cause of which is not present at birth.


name: Unresectable Platinum-Refractory Ovarian Carcinoma

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


serous adenocarcinofibroma of ovary

description: A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns.


Stage IV Ovarian Carcinoma

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


Ovarian Non-Neoplastic Disorder

description: A non-neoplastic disorder that affects the ovary.  Representative examples include endometriosis and polycystic ovarian disease.


name: Borderline Ovarian Mucinous Tumor, Endocervical-Like

description: A neoplasm of low malignant potential arising from the ovary.  It is characterized by the proliferation of neoplastic epithelial cells that resemble endocervical epithelial cells.  There is no evidence of stromal invasion.


Borderline Ovarian Seromucinous Tumor

description: A low grade ovarian epithelial neoplasm characterized by the presence of atypical neoplastic serous and mucinous cells.


BRCA-Associated Ovarian Carcinoma

description: Ovarian carcinoma caused by deleterious germline mutation in a gene of the BRCA family.


name: Solid Pseudopapillary Neoplasm of the Ovary

description: An exceedingly rare solid pseudopapillary neoplasm that occurs in ectopic pancreatic tissue in the ovary.


Thecoma, luteinized

description: A variant of ovarian thecoma characterized by the presence of lutein cells. It is associated with a lower frequency of estrogenic manifestations compared to typical thecomas. In a minority of cases androgenic manifestations are present.


name: Low Grade Ovarian Endometrioid Adenocarcinoma

description: Ovarian endometrioid adenocarcinoma exhibiting 50% or less solid non-glandular, non-squamous growth.


name: Ovarian Tumor of the Thecoma/Fibroma Group

description: A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells.


name: Ovarian Luteinized Thecoma Associated with Sclerosing Peritonitis

description: A rare usually bilateral luteinized thecoma that arises from the ovary and is associated with sclerosing peritonitis. It occurs mostly in premenopausal women. The ovarian tumor is benign but patients may develop intestinal obstruction due to the sclerosing peritonitis.


name: Ovarian germ cell choriocarcinoma stage III

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 IIA Ovarian Cancer AJCC v8

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


name: Unresectable Ovarian Undifferentiated Carcinoma

description: Ovarian undifferentiated carcinoma that is not amenable to surgical resection.


FIGO Stage IIIA1 Ovarian Cancer

description: Ovarian cancer with positive retroperitoneal lymph nodes only. (FIGO, 2014)


Platinum-Resistant Ovarian Carcinoma

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


FIGO Stage IIIA Ovarian Cancer

description: Ovarian cancer with positive retroperitoneal lymph nodes and/or microscopic metastasis beyond the pelvis. (FIGO, 2014)


name: Stage III Ovarian Yolk Sac Tumor AJCC v6 and v7


FIGO Stage IIIA1(ii) Ovarian Cancer

description: Ovarian cancer with positive retroperitoneal lymph nodes only. Metastasis greater than 10 mm. (FIGO, 2014)


name: Refractory Ovarian Seromucinous Carcinoma

description: Ovarian seromucinous carcinoma that is resistant to treatment.


ovarian sertoli-stromal cell tumor

description: A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.


Stage II Ovarian Cancer AJCC v8

description: Stage II includes: T2, N0, M0. T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Benign Ovarian Luteinized Thecoma

description: A non-metastasizing thecoma of the ovary that is characterized by the presence of lutein cells.


ovarian malignant mesothelioma

description: A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.


name: Childhood Ovarian Sclerosing Stromal Tumor

description: A sclerosing stromal tumor that arises from the ovary during childhood.


Ovarian Seromucinous Adenofibroma

description: A non-metastasizing mixed epithelial neoplasm that arises from the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous and prominent fibrous stroma..


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

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.)


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: 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.


hydroxynaphthoquinone

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


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


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.


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.


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.)


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 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.


Hurting Pain

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

description: A sensation of discomfort or distress that is very unpleasant.


Demodex folliculitis

description: A demodicidosis that involves the hair follicle.


demodicidosis of sebaceous gland

description: A demodicidosis that involves the sebaceous gland.


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.


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.


Allergy to bee venom

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


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.


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.


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.)


Fracture of Long Bone Related to Birth

description: An injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width.


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


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


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


folic acid deficiency anemia

description: Anemia caused by folate deficiency.


amino sulfonic acid

An organosulfonic acid containing one or more amino groups.


Childhood Acute Eosinophilic Leukemia

description: An acute eosinophilic leukemia occurring in children.


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.


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.


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.


disease

description: A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.


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: craniosynostosis arthrogryposis cleft palate


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.


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.


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


pedophilia

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


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.


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.


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.


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.


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.


seminal vesicle tumor

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


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.


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: 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.


bullous lichen planus

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


IFT140-related recessive ciliopathy

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


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.


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.


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.


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


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: 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).


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.


centrifugal lipodystrophy

description: Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.


torsion dystonia 17

description: A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.


familial bicuspid aortic valve

description: A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).


immunodeficiency 76

description: An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.


name: congenital heart defects, multiple types, 3


seminal vesicle acute gonorrhea

description: Acute form of gonococcal seminal vesiculitis.


hyperparathyroidism 2 with jaw tumors

description: An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.


name: hereditary angioedema with normal C1inh not related to F12 or PLG variant


trench fever

description: An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.


name: ectodermal dysplasia neurosensory deafness


severe congenital nemaline myopathy

description: Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.


infectious disease, non-human animal

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


chromosome 13 disorder

description: Chromosomal disorder in which chromosome 13 is affected.


st. Louis encephalitis

description: A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)


adult onset pityriasis rubra pilaris

description: A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.


chronic pain syndrome

description: Chronic form of disorder involving pain.


name: neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities


bullous dystrophy, macular type

description: A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.


name: metachromatic leukodystrophy, adult form


name: undifferentiated connective tissue syndrome

description: An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.


name: deafness-small bowel diverticulosis-neuropathy syndrome

description: Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).


name: peroxisome biogenesis disorder due to PEX11B defect

description: Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.


name: mitochondrial complex 1 deficiency, nuclear type 36


cataract 32 multiple types

description: A cataract that has material basis in mutation in the region 14q22-q23.


name: skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


transient pseudohypoaldosteronism

description: Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.


name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


name: immunodeficiency 115 with autoinflammation


description: Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).


podoconiosis

description: A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.


name: mitochondrial complex 1 deficiency, nuclear type 4


name: uterine corpus endometrial stromal sarcoma

description: A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.


muscular dystrophy, Duchenne type, pig

description: Muscular dystrophy, Duchenne type that occurs in pig.


inflammatory leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.


name: ciliary dyskinesia, primary, 48, without situs inversus


acrocephalopolysyndactyly

description: A common presentation of craniosynostosis and polysyndactyly.


familial rhabdoid tumor

description: A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.


name: B-lymphoblastic leukemia/lymphoma with IAMP21

description: A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.


name: autoimmune disorder of musculoskeletal system

description: A hypersensitivity reaction type II disease that involves the musculoskeletal system.


sporadic hemiplegic migraine

description: A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.


name: basal ganglia calcification, idiopathic, 8, autosomal recessive


dry age related macular degeneration

description: Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.


Lelis syndrome

description: Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.


name: convulsive disorder, familial, with prenatal or early onset


symmetrical thalamic calcifications

description: Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.


hereditary sensory neuropathy X-linked

description: A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.


name: indolylacroyl glycinuria with intellectual disability


chronic pulmonary heart disease

description: Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.


GUCY2D-related dominant retinopathy

description: A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.


triopia

description: A craniofacial malformation with prosencephalic duplication; the presence of three eyes.


mirror agnosia

description: An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.


description: Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.


Reoviridae infectious disease

description: Infections produced by reoviruses, general or unspecified.


name: Hao-Fountain syndrome due to 16p13.2 microdeletion

description: A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.