Ovarian Leiomyoma

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

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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.


Refractory Ovarian Mucinous Adenocarcinoma

Ovarian mucinous adenocarcinoma that is resistant to treatment.


Ovarian Torsion

Twisting of the ovary resulting in the cutoff of the blood supply to the ovary. It may develop in an enlarged or normal ovary and in the vast majority of cases is unilateral. Signs and symptoms include acute lower abdominal pain, nausea, vomiting, and fever.


Ovarian Signet Ring Cell Carcinoma

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

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


Recurrent Ovarian Seromucinous Carcinoma

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


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

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.


Stage IIC Ovarian Carcinoma

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.)


Recurrent Platinum-Resistant Ovarian Carcinoma

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


Recurrent Ovarian Germ Cell Tumor

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


Stage IA Ovarian Cancer

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.)


Ovarian Cancer by AJCC v6 and v7 Stage

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.


Stage II Ovarian Dysgerminoma AJCC v6 and v7

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.)


Refractory Ovarian Undifferentiated Carcinoma

Ovarian undifferentiated carcinoma that is resistant to treatment.


Metastatic Ovarian Undifferentiated Carcinoma

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


Recurrent Ovarian Endometrioid Adenocarcinoma

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


Stage IV Ovarian Germ Cell Tumor AJCC v6 and v7

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


ovarian germ cell tumor

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

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

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


ovary leiomyosarcoma

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

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.


Metastatic Microsatellite Stable Ovarian Carcinoma

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


Borderline Ovarian Endometrioid Tumor

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

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


Stage IV Ovarian Dysgerminoma AJCC v6 and v7


Stage IC Ovarian Cancer AJCC v8

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

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.


Stage IA Ovarian Germ Cell Tumor AJCC v6 and v7

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.)


Metastatic Platinum-Resistant Ovarian Carcinoma

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


FIGO Stage IVB Ovarian Cancer

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

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


Recurrent Ovarian Clear Cell Adenocarcinoma

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


Metastatic Ovarian Mucinous Adenocarcinoma

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


Ovarian Steroid Cell Tumor, Not Otherwise Specified

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

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

Ovarian carcinoma that is resistant to treatment.


Stage I Ovarian Polyembryoma AJCC v6 and v7

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

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

A melanoma (disease) that involves the ovary.


Refractory Ovarian Endometrioid Adenocarcinoma

Ovarian endometrioid adenocarcinoma that is resistant to treatment.


Ovarian Neuroectodermal-Type Tumor

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


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

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.


malignant germ cell tumor of ovary

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.


Well Differentiated Ovarian Sertoli-Leydig Cell Tumor

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.


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

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.


Stage IV Ovarian Yolk Sac Tumor AJCC v6 and v7

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


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

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.


ovarian endometrioid adenofibroma

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

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.)


Stage I Ovarian Yolk Sac Tumor AJCC v6 and v7


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

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

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

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.)


Stage IIC Ovarian Germ Cell Tumor AJCC v6 and v7

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.)


Ovarian Leydig Cell Tumor, Non-Hilar Type

A Leydig cell tumor that arises from the ovarian stroma.


Benign thecoma

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


Borderline Ovarian Mucinous Tumor, Intestinal Type

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

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


FIGO Stage III Ovarian Cancer

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)


FIGO Stage II Ovarian Cancer

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


Stage I Ovarian Embryonal Carcinoma AJCC v6 and v7

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.)


Advanced Ovarian Carcinosarcoma

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


Recurrent Extrarenal Rhabdoid Tumor of the Ovary

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


Extrarenal Rhabdoid Tumor of the Ovary

An extrarenal rhabdoid tumor affecting the ovary.


Stage III Ovarian Embryonal Carcinoma AJCC v6 and v7

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

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.


Stage III Borderline Ovarian Surface Epithelial-Stromal Tumor

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.)


Adult Type Ovarian Granulosa Cell Tumor

A granulosa cell tumor that affects middle aged or postmenopausal women.  Patients may present with uterine bleeding.


Stage II Ovarian Germ Cell Tumor AJCC v6 and v7

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.)


Recurrent Ovarian Mucinous Adenocarcinoma

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


Acquired Ovarian Failure

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


serous adenocarcinofibroma of ovary

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

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


Ovarian Non-Neoplastic Disorder

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


Borderline Ovarian Mucinous Tumor, Endocervical-Like

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.


Gonadotropin-Resistant Ovary Syndrome

Ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova.


Borderline Ovarian Seromucinous Tumor

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


BRCA-Associated Ovarian Carcinoma

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


Solid Pseudopapillary Neoplasm of the Ovary

An exceedingly rare solid pseudopapillary tumor that occurs in ectopic pancreatic tissue in the ovary.


Thecoma, luteinized

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.


Ovarian Tumor of the Thecoma/Fibroma Group

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.


Ovarian Luteinized Thecoma Associated with Sclerosing Peritonitis

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.


Ovarian germ cell choriocarcinoma stage III

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

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.)


Unresectable Ovarian Undifferentiated Carcinoma

Ovarian undifferentiated carcinoma that is not amenable to surgical resection.


FIGO Stage IIIA1 Ovarian Cancer

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


Platinum-Resistant Ovarian Carcinoma

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


Stage IIIA Ovarian Carcinoma

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


Stage III Ovarian Yolk Sac Tumor AJCC v6 and v7


FIGO Stage IIIA1(ii) Ovarian Cancer

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


Refractory Ovarian Seromucinous Carcinoma

Ovarian seromucinous carcinoma that is resistant to treatment.


ovarian sertoli-stromal cell tumor

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

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

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


ovarian malignant mesothelioma

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


Ovarian Seromucinous Adenofibroma

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

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


Stage IIIC Ovarian Germ Cell Tumor AJCC v6 and v7

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

A transitional cell neoplasm of low malignant potential arising from the ovary.  It is characterized by the presence of neoplastic transitional cells with atypical features without evidence of stromal invasion.


Typical Ovarian Thecoma

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.


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

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


Unresectable Ovarian Mucinous Adenocarcinoma

Ovarian mucinous adenocarcinoma that is not amenable to surgical resection.


choriocarcinoma of ovary

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

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.


Borderline Ovarian Endometrioid Cystadenofibroma

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.


Ovarian Sex Cord Tumor with Annular Tubules

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.


Stage III Ovarian Germ Cell Tumor AJCC v6 and v7

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

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.)


Stage II Ovarian Embryonal Carcinoma AJCC v6 and v7

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.)


Ovarian Retiform Sertoli-Leydig Cell Tumor

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.


Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor

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.


Unresectable Platinum-Resistant Ovarian Carcinoma

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


Ovarian germ cell choriocarcinoma stage IV

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


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

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


Stage IIIA Choroidal and Ciliary Body Melanoma AJCC v8

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

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.


Grade 2 Urinary Frequency, CTCAE

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Limiting instrumental ADL; medical management indicated


Postneoadjuvant Therapy Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Gastric Cardia Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the gastric cardia.


Grade 2 Other Intra-Operative Injury, CTCAE


Grade 1 Other Intra-Operative Injury, CTCAE


Grade 3 Other Intra-Operative Injury, CTCAE


Grade 4 Other Intra-Operative Injury, CTCAE


Partington syndrome

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


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.


glucocorticoid deficiency 4

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


Grade 3 Hypotension, CTCAE

Medical intervention indicated; hospitalization indicated


Stage IV Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Esophageal Well Differentiated Squamous Cell Carcinoma

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


Clinical Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Postneoadjuvant Therapy Stage I Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Cervical Esophagus Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the cervical esophagus.


Clinical Stage II Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage II Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Pathologic Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage IB Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Pathologic Stage IB Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage IIIC Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Postneoadjuvant Therapy Stage III Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage I Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Esophageal Squamous Cell Carcinoma by AJCC v7 Stage

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


Pathologic Stage IA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Clinical Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Refractory Esophageal Squamous Cell Carcinoma

Esophageal squamous cell carcinoma that is resistant to treatment.


Pathologic Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage IV Esophageal Squamous Cell Carcinoma

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


Pathologic Stage IIA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Alcohol-Related Esophageal Squamous Cell Carcinoma

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.


Esophageal Squamous Cell Carcinoma by AJCC v8 Postneoadjuvant Therapy Stage

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


Pathologic Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8

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


Unresectable Esophageal Squamous Cell Carcinoma

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


Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Clinical Stage III Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Postneoadjuvant Therapy Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8


Esophageal Poorly Differentiated Squamous Cell Carcinoma

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


Advanced Esophageal Squamous Cell Carcinoma

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


Clinical Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage IIB Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Thoracic Esophagus Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the thoracic esophagus.


Esophageal Squamous Cell Carcinoma by AJCC v8 Pathologic Stage

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


Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma

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


Pathologic Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Clinical Stage I Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Pathologic Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Postneoadjuvant Therapy Stage II Esophageal Squamous Cell Carcinoma AJCC v8

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


Distal Esophagus Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the distal esophagus.


Locally Advanced Esophageal Squamous Cell Carcinoma

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


Esophageal Carcinoma Cuniculatum

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.


Stage IA Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Pathologic Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage 0 Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Postneoadjuvant Therapy Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Clinical Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Pathologic Stage IIB Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Postneoadjuvant Therapy Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Stage III Esophageal Squamous Cell Carcinoma AJCC v7

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.)


Pathologic Stage III Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Esophageal Squamous Cell Carcinoma by AJCC v8 Stage

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


Pathologic Stage II Esophageal Squamous Cell Carcinoma AJCC v8

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.)


Esophageal Squamous Cell Carcinoma by AJCC v8 Clinical Stage

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


Postneoadjuvant Therapy Stage IV Esophageal Squamous Cell Carcinoma AJCC v8

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

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.


Esophageal Moderately Differentiated Squamous Cell Carcinoma

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


Pathologic Stage I Esophageal Squamous Cell Carcinoma AJCC v8

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.)


idiopathic hypersomnia with long sleep time

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.


Senior-Loken syndrome 5

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


Grade 3 Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 4 Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 2 Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


Grade 5 Lens Infection with Unknown Absolute Neutrophil Count, CTCAE


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.


Grade 2 Pharyngeal Anastomotic Leak, CTCAE

Symptomatic; medical intervention indicated


Stage IA Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8

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

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


fallopian tube germ cell tumor

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


fallopian tube benign neoplasm

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


fallopian tube leiomyoma

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

A cancer that involves the UBERON:0016632.


fallopian tube leiomyosarcoma

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


fallopian tube adenosarcoma

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

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

A sensation of discomfort or distress that is very unpleasant.


demodicidosis

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


demodicidosis of sebaceous gland

A demodicidosis that involves the sebaceous gland.


Mold or Dust Allergy

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


hypersensitivity reaction disease

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)

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


Processed Food Allergy

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


shellfish allergy

Allergic reaction to shellfish or shellfish products.


Dog Allergy

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


Venomous Ant Bite Allergy

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


fruit allergy

A food allergy triggered by a plant fruit product.


type III hypersensitivity disease

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


Allergy to bee venom

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


Contact hypersensitivity

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


Wasp Sting Allergy

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


Dairy or Lactose Intolerance Allergy

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


type II cellular hypersensitivity

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


Coal Dust Exposure

Environmental or occupational exposure to dust derived during the processing of coal.


Blast Phase Myeloproliferative Neoplasm

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

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

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

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


sclerema neonatorum

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.


Stage IB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

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

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


Butopamine

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


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


alpha-mannosidosis

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


beta-mannosidosis

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


anemia, nonspherocytic hemolytic, due to G6PD deficiency

An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with CNSHA have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


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


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


heritable pulmonary arterial hypertension

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


Grade 1 Oligospermia, CTCAE

Sperm concentration > 0 to < 15 million/ml


amino sulfonic acid

An organosulfonic acid containing one or more amino groups.


Childhood Acute Eosinophilic Leukemia

An acute eosinophilic leukemia occurring in children.


CIC-rearranged sarcoma

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 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.


Central Nervous System CIC-Rearranged Sarcoma

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

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.


trisomy 8q

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

Chromosomal disorder in which chromosome 8 is affected.


partial duplication of the short arm of chromosome 8

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

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


chromosome 8Q12.1-q21.2 deletion syndrome


monosomy chromosome 8

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


8q22.1 microdeletion syndrome

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

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).


partial deletion of the long arm of chromosome 8

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

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).


partial deletion of the short arm of chromosome 8

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.


partial duplication of the long arm of chromosome 8


mesomelia-synostoses syndrome

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

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

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


8p11.2 deletion syndrome

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


8q12 microduplication syndrome

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.


8p inverted duplication/deletion syndrome

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

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.


disease

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


sporadic adult-onset ataxia of unknown etiology

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.


hypogonadotropic hypogonadism 13 with or without anosmia

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


craniosynostosis arthrogryposis cleft palate


baclofen withdrawal syndrome

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.


hereditary thrombocytopenia and hematologic cancer predisposition syndrome

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.


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

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


acute pharyngitis

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

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


acquired ichthyosis

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


abducens nerve palsy

Paralysis of the abducens nerve.


pedophilia

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


classic congenital adrenal hyperplasia

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


brittle cornea syndrome 2

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


Guillain-Barre syndrome, familial

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


neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


associative visual agnosia

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


congenital generalized lipodystrophy type 1

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


inflammatory disease

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


intellectual disability, autosomal recessive 29


necrotizing sialometaplasia

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

A sarcoma that involves the dendritic cell.


simple cryoglobulinemia

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

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.


autosomal recessive non-syndromic intellectual disability

Autosomal recessive form of non-syndromic intellectual disability.


trisomy 21

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


mirror movements 1 and/or agenesis of the corpus callosum

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

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


Flaviviridae infectious disease

Infections with viruses of the family flaviviridae.


endometrioid stromal and related neoplasms

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.


short stature with microcephaly and distinctive facies


panic disorder without agoraphobia

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

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

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

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

A neoplasm involving a oculomotor nerve.


haemophilus meningitis

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


nonsyndromic congenital nail disorder 1

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


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

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


seminal vesicle tumor

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


precocious puberty, central, 2

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


infiltrating angiolipoma

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


malignant migrating partial seizures of infancy

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.


radiation sensitivity/chromosome instability syndrome, autosomal dominant


hereditary sensory and autonomic neuropathy

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


Lewis-Sumner syndrome

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.


NAA10-related syndrome

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.


intellectual disability, autosomal recessive 58

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


hyper-IgM syndrome without susceptibility to opportunistic infections


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

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


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


bullous lichen planus

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


hyperlipoproteinemia, type 1D

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


megalencephalic leukoencephalopathy with subcortical cysts 1


pelvic dysplasia-arthrogryposis of lower limbs syndrome


early T cell progenitor acute lymphoblastic leukemia

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

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


endocrine tuberculosis

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


uterine corpus carcinofibroma

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.


non-recovering obstetric brachial plexus lesion


complete atrioventricular canal-tetralogy of fallot syndrome


orbital dermoid cyst

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.


spastic paraplegia 80, autosomal dominant


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


disorder of gluconeogenesis

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


focal segmental glomerulosclerosis 9

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


congenital anomalies of kidney and urinary tract 3


hypoglossal nerve disorder

A disease involving the hypoglossal nerve.


eccrine acrospiroma

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.


lymphoma, Hodgkin, Y-linked pseudoautosomal


Reynolds syndrome

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


monosomy 21

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.


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

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.


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

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


familial hyperinflammatory lymphoproliferative immunodeficiency


lissencephaly spectrum disorder with complex brainstem malformation

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

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


fetal akinesia deformation sequence 1

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


sciatic neuropathy

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


axial spondylometaphyseal dysplasia

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.


centrifugal lipodystrophy

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

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.


immunodeficiency 76

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.


autosomal recessive pseudohypoaldosteronism type 1

Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.


congenital heart defects, multiple types, 3


seminal vesicle acute gonorrhea

Acute form of gonococcal seminal vesiculitis.


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


trench fever

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.


ectodermal dysplasia neurosensory deafness


severe congenital nemaline myopathy

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


encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


chromosome 13 disorder

Chromosomal disorder in which chromosome 13 is affected.


st. Louis encephalitis

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

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


inflammatory myofibroblastic tumor

A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.


chronic pain syndrome

Chronic form of disorder involving pain.


combined oxidative phosphorylation deficiency 28

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.


metachromatic leukodystrophy, adult form


undifferentiated connective tissue syndrome

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


mitochondrial complex 1 deficiency, nuclear type 36


cataract 32 multiple types

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


testicular sex cord-stromal neoplasm

A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.


transient pseudohypoaldosteronism

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.


neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


primary ciliary dyskinesia 23

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.


skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


Meier-Gorlin syndrome 5

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.


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


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).


morphine dependence

Strong dependence, both physiological and emotional, upon morphine.


inflammatory leiomyosarcoma

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


podoconiosis

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


mitochondrial complex 1 deficiency, nuclear type 4


uterine corpus endometrial stromal sarcoma

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


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


ciliary dyskinesia, primary, 48, without situs inversus


retinitis pigmentosa 3

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


myotonic dystrophy

An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.


acrocephalopolysyndactyly

A common presentation of craniosynostosis and polysyndactyly.


cataract 10 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.


atrial fibrillation, familial, 3

Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.


B-lymphoblastic leukemia/lymphoma with IAMP21

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


autoimmune disorder of musculoskeletal system

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


retinitis pigmentosa 46

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.


sporadic hemiplegic migraine

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


methemoglobinemia due to deficiency of methemoglobin reductase


focal dermal hypoplasia

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


basal ganglia calcification, idiopathic, 8, autosomal recessive


dry age related macular degeneration

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


Lelis syndrome

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