name: Stage IA Intrahepatic Cholangiocarcinoma AJCC v8

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


Cholangiocarcinoma resectable

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

description: Cholangiocarcinoma that is amenable to surgical resection.


Metastatic Bile Duct Carcinoma

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


name: Advanced Extrahepatic Bile Duct Carcinoma

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


name: Stage IVB Hilar Cholangiocarcinoma AJCC v8

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


name: Stage IB Distal Bile Duct Cancer AJCC v7

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


name: Localized Extrahepatic Bile Duct Carcinoma

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


name: Stage IIIB Hilar Cholangiocarcinoma AJCC v7

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


name: Hilar Cholangiocarcinoma by AJCC v7 Stage

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


Cholangiocarcinoma non-resectable

description: Cholangiocarcinoma that is not amenable to surgical resection.


name: Stage IVA Intrahepatic Cholangiocarcinoma AJCC v7

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


Distal Bile Duct Adenocarcinoma

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


name: Clear Cell Intrahepatic Cholangiocarcinoma

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


Stage I Distal Bile Duct Cancer AJCC v8

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


Metastatic Hilar Cholangiocarcinoma

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


name: Stage IIIC Hilar Cholangiocarcinoma AJCC v8

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


name: Unresectable Distal Bile Duct Adenocarcinoma

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


name: Recurrent Distal Bile Duct Adenocarcinoma

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


name: Extrahepatic Bile Duct Neuroendocrine Carcinoma

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


name: Stage I Hilar Cholangiocarcinoma AJCC v7

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


name: Locally Advanced Unresectable Cholangiocarcinoma

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


name: Stage IV Hilar Cholangiocarcinoma AJCC v8

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


Bile duct cancer resectable

description: Extrahepatic bile duct carcinoma that is amenable to surgical removal.


Locally Advanced Bile Duct Carcinoma

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


Metastatic cholangiocarcinoma

description: A cholangiocarcinoma that has metastasized to other anatomic sites.


Advanced Bile Duct Carcinoma

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


name: Stage IVA Hilar Cholangiocarcinoma AJCC v7

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


name: Locally Advanced Intrahepatic Cholangiocarcinoma

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


name: Metastatic Distal Bile Duct Adenocarcinoma

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


name: intestinal type adenocarcinoma of extrahepatic bile duct

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


Bile duct cancer recurrent

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


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v8

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


name: Stage IV Distal Bile Duct Cancer AJCC v8

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


description: Intrahepatic cholangiocarcinoma that has metastasized to a limited number of sites.


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v7

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


name: Stage IIIA Distal Bile Duct Cancer AJCC v8

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


Refractory Bile Duct Carcinoma

description: Bile duct carcinoma that is resistant to treatment.


name: Stage IIIB Intrahepatic Cholangiocarcinoma AJCC v8

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


description: The reemergence of intrahepatic cholangiocarcinoma after a period of remission.


name: Recurrent Extrahepatic Bile Duct Carcinoma

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


name: Refractory Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that is resistant to treatment.


name: anaplastic carcinoma of extrahepatic bile duct

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


name: Hilar Cholangiocarcinoma by AJCC v8 Stage

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


name: Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7

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


name: Stage II Distal Bile Duct Cancer AJCC v8

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


name: Stage IVA Hilar Cholangiocarcinoma AJCC v8

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


name: Stage I Hilar Cholangiocarcinoma AJCC v8

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


name: Stage II Hilar Cholangiocarcinoma AJCC v8

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


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v8

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


name: Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma

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


name: Intrahepatic Cholangiocarcinoma by AJCC v8 Stage

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


name: Stage IV Intrahepatic Cholangiocarcinoma AJCC v8

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


name: Stage IIB Distal Bile Duct Cancer AJCC v7

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


name: Stage IIIA Hilar Cholangiocarcinoma AJCC v8

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


name: Distal Bile Duct Cancer by AJCC v8 Stage

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


name: Metastatic Extrahepatic Bile Duct Carcinoma

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


name: Extrahepatic Bile Duct Adenocarcinoma, Biliary Type

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


name: Stage IB Intrahepatic Cholangiocarcinoma AJCC v8

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


name: carcinosarcoma of extrahepatic bile duct

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


name: Stage IV Distal Bile Duct Cancer AJCC v7

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


name: Stage IIB Distal Bile Duct Cancer AJCC v8

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


name: Stage 0 Hilar Cholangiocarcinoma AJCC v7

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


name: Stage IA Distal Bile Duct Cancer AJCC v7

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


name: Locally Advanced Extrahepatic Bile Duct Carcinoma

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


Unresectable Bile Duct Carcinoma

description: Bile duct carcinoma that is not amenable to surgical resection.


name: Stage IIIB Distal Bile Duct Cancer AJCC v8

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


name: Stage IVB Hilar Cholangiocarcinoma AJCC v7

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


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


name: Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma

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


Unresectable Hilar Cholangiocarcinoma

description: Hilar cholangiocarcinoma that is not amenable to surgical resection.


name: Stage III Hilar Cholangiocarcinoma AJCC v8

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


name: Intrahepatic Cholangiocarcinoma by AJCC v7 Stage

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


name: Stage IIIA Intrahepatic Cholangiocarcinoma AJCC v8

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


name: Stage IIA Distal Bile Duct Cancer AJCC v8

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


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v7

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


name: Refractory Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that is resistant to treatment.


Metastatic Distal Bile Duct Carcinoma

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


name: Extrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

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


description: Intrahepatic cholangiocarcinoma that is amenable to surgical resection.


name: Stage IIA Distal Bile Duct Cancer AJCC v7

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


Cholangiocarcinoma recurrent

description: The reemergence of cholangiocarcinoma after a period of remission.


name: Small Duct Intrahepatic Cholangiocarcinoma

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


name: Stage 0 Intrahepatic Cholangiocarcinoma AJCC v8

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


name: Distal Bile Duct Cancer by AJCC v7 Stage

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


description: Intrahepatic cholangiocarcinoma that is resistant to treatment.


name: Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type

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


description: Intrahepatic cholangiocarcinoma that is not amenable to surgical removal.


name: Stage II Hilar Cholangiocarcinoma AJCC v7

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


name: Stage III Distal Bile Duct Cancer AJCC v7

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


Locally Advanced Cholangiocarcinoma

description: Cholangiocarcinoma that has spread to nearby tissues or lymph nodes.


name: Stage I Intrahepatic Cholangiocarcinoma AJCC v8

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


name: Unresectable Extrahepatic Bile Duct Carcinoma

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


name: Stage IIIB Hilar Cholangiocarcinoma AJCC v8

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


name: Resectable Extrahepatic Bile Duct Adenocarcinoma

description: Extrahepatic bile duct adenocarcinoma that is amenable to surgical resection.


name: Stage IIIA Hilar Cholangiocarcinoma AJCC v7

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


name: Intrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

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


name: Stage I Intrahepatic Cholangiocarcinoma AJCC v7

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


name: Stage III Distal Bile Duct Cancer AJCC v8

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


Bile duct adenocarcinoma resectable

description: Bile duct adenocarcinoma that is amenable to surgical resection.


name: Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma

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


Stage 0 Distal Bile Duct Cancer AJCC v8

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


Stage 0 Distal Bile Duct Cancer AJCC v7

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


Refractory Cholangiocarcinoma

description: Cholangiocarcinoma that is resistant to treatment.


name: large cell neuroendocrine carcinoma of extrahepatic bile duct

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


name: armadillo repeat-containing protein 1 isoform h2 (human)

description: An armadillo repeat-containing protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NVT9-2.


name: collagen alpha-6(VI) chain isoform m1 (mouse)

description: A collagen alpha-6(VI) chain (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C6K9-1.


name: CO6A6_MOUSE Collagen alpha-6(VI) chain (sprot)

description: A collagen alpha-6(VI) chain that is encoded in the genome of mouse.


name: collagen alpha-6(VI) chain isoform m2 (mouse)

description: A collagen alpha-6(VI) chain (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8C6K9-2.


name: sorbin and SH3 domain-containing protein 1 isoform m5 (mouse)

description: A sorbin and SH3 domain-containing protein 1 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62417-5.


name: NHR76_CAEEL Nuclear hormone receptor family member nhr-76 (sprot)

description: A protein that is a translation product of the nhr-76 gene in worm.


name: probable E3 ubiquitin-protein ligase HERC6 isoform h3 (human)

description: A probable E3 ubiquitin-protein ligase HERC6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IVU3-3.


name: uncharacterized ABC transporter ATP-binding protein YnjD

description: A protein that is a translation product of the Escherichia coli K-12 ynjD gene or a 1:1 ortholog thereof.


name: YNJD_ECOLI Uncharacterized ABC transporter ATP-binding protein YnjD (sprot)

description: An uncharacterized ABC transporter ATP-binding protein YnjD that is encoded in the genome of Escherichia coli K-12.


name: zinc finger protein 829 isoform h3 (human)

description: A zinc finger protein 829 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3KNS6-3.


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

description: An ectonucleotide pyrophosphatase/phosphodiesterase family member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13822-2.


name: EP300-interacting inhibitor of differentiation 1 isoform h2 (human)

description: An EP300-interacting inhibitor of differentiation 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y6B2-2.


name: PHD finger protein 20-like protein 1 isoform h1 (human)

description: A PHD finger protein 20-like protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A8MW92-1.


PEDILSTATIN

A phorbol ester that is 4-deoxyphorbol in which the hydroxy groups at positions  12 and 13 have been replaced by octa-2,4-dienoyloxy and acetyloxy groups respectively.


name: RAD1_SCHPO DNA damage checkpoint control protein rad1 (sprot)

description: A cell cycle checkpoint protein RAD1 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: adhesion G-protein coupled receptor G2 isoform h3 (human)

description: An adhesion G-protein coupled receptor G2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IZP9-3.


name: HXD4_HUMAN Homeobox protein Hox-D4 (sprot)

description: A homeobox protein Hox-D4 that is encoded in the genome of human.


homeobox protein Hox-D4

A protein that is a translation product of the human HOXD4 gene or a 1:1 ortholog thereof.


name: HXD4_MOUSE Homeobox protein Hox-D4 (sprot)

description: A homeobox protein Hox-D4 that is encoded in the genome of mouse.


name: citramalyl-CoA lyase, mitochondrial isoform 1 (mouse)

description: A citramalyl-CoA lyase, mitochondrial isoform 1 that is encoded in the genome of mouse.


citramalyl-CoA lyase, mitochondrial

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


name: citramalyl-CoA lyase, mitochondrial isoform h1 (human)

description: A citramalyl-CoA lyase, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N0X4-1.


name: CLYBL_MOUSE Citramalyl-CoA lyase, mitochondrial (sprot)

description: A citramalyl-CoA lyase, mitochondrial that is encoded in the genome of mouse.


name: citramalyl-CoA lyase, mitochondrial isoform r2 (rat)

description: A citramalyl-CoA lyase, mitochondrial (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5I0K3-2.


name: citramalyl-CoA lyase, mitochondrial isoform 1

description: A citramalyl-CoA lyase, mitochondrial that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8R4N0-1 or a 1:1 ortholog thereof.


name: citramalyl-CoA lyase, mitochondrial isoform h2 (human)

description: A citramalyl-CoA lyase, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N0X4-2.


name: CLYBL_RAT Citramalyl-CoA lyase, mitochondrial (sprot)

description: A citramalyl-CoA lyase, mitochondrial that is encoded in the genome of rat.


name: CLYBL_HUMAN Citramalyl-CoA lyase, mitochondrial (sprot)

description: A citramalyl-CoA lyase, mitochondrial that is encoded in the genome of human.


name: citramalyl-CoA lyase, mitochondrial isoform 1 (rat)

description: A citramalyl-CoA lyase, mitochondrial isoform 1 that is encoded in the genome of rat.


name: RL11_DROME Large ribosomal subunit protein uL5 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL5 that is encoded in the genome of fruit fly.


choroid spindle cell melanoma

description: A spindle cell melanoma that involves the optic choroid.


choroid epithelioid cell melanoma

description: A epithelioid cell melanoma that involves the optic choroid.


choroid necrotic melanoma

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


choroid mixed cell melanoma

description: A mixed cell uveal melanoma that involves the optic choroid.


intermediate cell type choroid melanoma

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


name: PRP39_SCHPO Pre-mRNA-processing factor 39 (sprot)

description: A pre-mRNA-processing factor 39 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


fumaric aciduria

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


zinc finger protein 24 isoform 1 (rat)

A zinc finger protein 24 isoform 1 that is encoded in the genome of rat.


PGS2_MOUSE Decorin (sprot)

A decorin that is encoded in the genome of mouse.


Ankle Injuries

description: Trauma to the ankle joint.


EGFR Driver Mutation Negative

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

description: A genetic finding indicating that disease-causing (driver) mutations in the EGFR gene are not present in a sample.


name: transmembrane protein 232 isoform m1 (mouse)

description: A transmembrane protein 232 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5K6N0-1.


name: LPAR2_HUMAN Lysophosphatidic acid receptor 2 (sprot)

description: A lysophosphatidic acid receptor 2 that is encoded in the genome of human.


name: tripartite motif-containing protein 42 isoform 1 (human)

description: A tripartite motif-containing protein 42 isoform 1 that is encoded in the genome of human.


name: TRI42_HUMAN Tripartite motif-containing protein 42 (sprot)

description: A tripartite motif-containing protein 42 that is encoded in the genome of human.


name: tripartite motif-containing protein 42 isoform h2 (human)

description: A tripartite motif-containing protein 42 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IWZ5-2.


name: 2-[[(2-ethoxyphenyl)-oxomethyl]amino]acetic acid [2-(2,6-dimethyl-1-piperidinyl)-2-oxoethyl] ester


GGN_RAT Gametogenetin (sprot)

A gametogenetin that is encoded in the genome of rat.


name: protein SPA1-RELATED 3 isoform 2 (Arabidopsis thaliana)

description: A protein SPA1-RELATED 3 (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9LJR3-2.


LSM7_ARATH Sm-like protein LSM7 (sprot)

A U6 snRNA-associated Sm-like protein LSm7 that is encoded in the genome of Arabidopsis thaliana.


vertebral artery insufficiency

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


name: EEPD1_MOUSE Endonuclease/exonuclease/phosphatase family domain-containing protein 1 (sprot)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 that is encoded in the genome of mouse.


name: endonuclease/exonuclease/phosphatase family domain-containing protein 1

description: A protein that is a translation product of the human EEPD1 gene or a 1:1 ortholog thereof.


name: endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform 1 (human)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform 1 that is encoded in the genome of human.


name: EEPD1_DANRE Endonuclease/exonuclease/phosphatase family domain-containing protein 1 (sprot)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 that is encoded in the genome of zebrafish.


name: EEPD1_HUMAN Endonuclease/exonuclease/phosphatase family domain-containing protein 1 (sprot)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 that is encoded in the genome of human.


name: EEPD1_RAT Endonuclease/exonuclease/phosphatase family domain-containing protein 1 (sprot)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 that is encoded in the genome of rat.


name: endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform 1

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7L9B9-1 or a 1:1 ortholog thereof.


name: endonuclease/exonuclease/phosphatase family domain-containing protein 1, initiator methionine removed form (human)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 (human) that has had the initiator methionine removed. UniProtKB:Q7L9B9, 2-569.


name: endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform 1 (rat)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform 1 that is encoded in the genome of rat.


name: endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform 1 (mouse)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform 1 that is encoded in the genome of mouse.


name: RF1M_MOUSE Peptide chain release factor 1, mitochondrial (sprot)

description: A peptide chain release factor 1, mitochondrial that is encoded in the genome of mouse.


name: phospholipid-transporting ATPase ABCA7 isoform h1 (human)

description: A phospholipid-transporting ATPase ABCA7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IZY2-1.


name: protein adenylyltransferase SelO, mitochondrial

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


name: protein adenylyltransferase SelO, mitochondrial methylated 1 (human)

description: A protein adenylyltransferase SelO, mitochondrial (human) that has been methylated on the residue at the position equivalent to Cys-164 of the amino acid sequence represented by UniProtKB:Q9BVL4. UniProtKB:Q9BVL4, Cys-164, MOD:00660.


name: SELO_MOUSE Protein adenylyltransferase SelO, mitochondrial (sprot)

description: A protein adenylyltransferase SelO, mitochondrial that is encoded in the genome of mouse.


name: SELO_HUMAN Protein adenylyltransferase SelO, mitochondrial (sprot)

description: A protein adenylyltransferase SelO, mitochondrial that is encoded in the genome of human.


name: SELO1_DANRE Protein adenylyltransferase SelO-1, mitochondrial (sprot)

description: A protein adenylyltransferase SelO, mitochondrial that is encoded in the genome of zebrafish.


name: putative tyrosine-protein kinase F09A5.2 isoform b (worm)

description: A putative tyrosine-protein kinase F09A5.2 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q19238-1.


methyl alpha-D-galactoside

An alpha-D-galactoside having a methyl substituent at the anomeric position.


name: (6-4)DNA photolyase isoform 2 (Arabidopsis thaliana)

description: A (6-4)DNA photolyase (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O48652-2.


UVR3_ARATH (6-4)DNA photolyase (sprot)

A protein that is a translation product of the UVR3 gene in Arabidopsis thaliana.


name: (6-4)DNA photolyase isoform 1 (Arabidopsis thaliana)

description: A (6-4)DNA photolyase (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O48652-1.


name: heat shock factor protein 4 isoform hHSF4B (human)

description: A heat shock factor protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9ULV5-1.


chromotropic acid

A naphthalenesulfonic acid that is naphthalene-2,7-disulfonic acid substituted by hydroxy groups at positions 4 and 5.


protein ITPRID1 isoform h1 (human)

A protein ITPRID1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6ZRS4-1.


name: glyceraldehyde-3-phosphate dehydrogenase A isoform 1, initiator methionine removed acetylated 1 (Escherichia coli K-12)

description: A glyceraldehyde-3-phosphate dehydrogenase A isoform 1, initiator methionine removed acetylated 1 in Escherichia coli K-12. UniProtKB:P0A9B2-1, 2-331, Lys-138/Lys-192/Lys-249, MOD:00064.


name: glyceraldehyde-3-phosphate dehydrogenase A isoform 1

description: A glyceraldehyde-3-phosphate dehydrogenase A that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P0A9B2-1 or a 1:1 ortholog thereof.


name: glyceraldehyde-3-phosphate dehydrogenase A isoform 1, initiator methionine removed form

description: A glyceraldehyde-3-phosphate dehydrogenase A isoform 1 that has had the initiator methionine removed.


name: glyceraldehyde-3-phosphate dehydrogenase A isoform 1, initiator methionine removed acetylated 1

description: A glyceraldehyde-3-phosphate dehydrogenase A isoform 1, initiator methionine removed form that has been post-translationally modified to include N6-acetyllysine residues. Example: UniProtKB:P0A9B2-1, Lys-138/Lys-192/Lys-249, MOD:00064.


name: glyceraldehyde-3-phosphate dehydrogenase A isoform 1 (Escherichia coli K-12)

description: A glyceraldehyde-3-phosphate dehydrogenase A isoform 1 that is encoded in the genome of Escherichia coli K-12.


Eyelid Carcinoma pT2a TNM Finding v8

description: Eyelid carcinoma with tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. (from AJCC 8th Ed.)


name: AT2B1_MOUSE Plasma membrane calcium-transporting ATPase 1 (sprot)

description: A plasma membrane calcium-transporting ATPase 1 that is encoded in the genome of mouse.


name: MP3K2_ARATH Mitogen-activated protein kinase kinase kinase 9 (sprot)

description: A protein that is a translation product of the MEKK2 gene in Arabidopsis thaliana.


name: cytochrome b-c1 complex subunit 6, mitochondrial cysteinylated 2 (human)

description: A cytochrome b-c1 complex subunit 6, mitochondrial (human) that has been cysteinylated on the residue at the position equivalent to Cys-37 of the amino acid sequence represented by UniProtKB:P07919. UniProtKB:P07919, Cys-37, MOD:00765.


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


name: THG1_DICDI Probable tRNA(His) guanylyltransferase (sprot)

description: A probable tRNA(His) guanylyltransferase that is encoded in the genome of Dictyostelium discoideum.


name: FB216_ARATH F-box protein At3g62430 (sprot)

description: A protein that is a translation product of the At3g62430 gene in Arabidopsis thaliana.


Anal Intraepithelial Neoplasia 2

description: Anal canal or perianal skin intraepithelial neoplasia with moderate dysplasia.


name: large ribosomal subunit protein uL30x isoform 1 (Arabidopsis thaliana)

description: A large ribosomal subunit protein uL30x (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P60039-1.


name: RL73_ARATH Large ribosomal subunit protein uL30x (sprot)

description: A protein that is a translation product of the RPL7C gene in Arabidopsis thaliana.


name: zinc finger protein 337 isoform h2 (human)

description: A zinc finger protein 337 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y3M9-2.


name: CHD7_CHICK Chromodomain-helicase-DNA-binding protein 7 (sprot)

description: A chromodomain-helicase-DNA-binding protein 7 that is encoded in the genome of chicken.


name: latrophilin-like protein 1 isoform a (worm)

description: A latrophilin-like protein 1 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:G5EDW2-1.


name: ornithine decarboxylase antizyme 2 isoform 1 (human)

description: An ornithine decarboxylase antizyme 2 isoform 1 that is encoded in the genome of human.


insulin receptor N-glycosylated 3 (rat)

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


name: ubiquitin receptor RAD23b isoform 2 (Arabidopsis thaliana)

description: A ubiquitin receptor RAD23b (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q84L33-2.


name: 40S ribosomal protein S19 isoform 1 (mouse)

description: A small ribosomal subunit protein eS19 isoform 1 that is encoded in the genome of mouse.


name: ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1 (human)

description: A ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1 that is encoded in the genome of human.


name: calcium-dependent secretion activator 2 isoform h1 (human)

description: A calcium-dependent secretion activator 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86UW7-1.


name: methyltransferase N6AMT1 isoform m2 (mouse)

description: A methyltransferase N6AMT1 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6SKR2-2.


name: PPAC2_DROME Low molecular weight phosphotyrosine protein phosphatase 2 (sprot)

description: A protein that is a translation product of the primo-2 gene in fruit fly.


name: SYH_ECOLI Histidine--tRNA ligase (sprot)

description: A histidine--tRNA ligase that is encoded in the genome of Escherichia coli K-12.


reelin deaminated 2 (human)

A reelin (human) that has been deaminated on the residue at the position equivalent to Asn-3029 of the amino acid sequence represented by UniProtKB:P78509-1. Example: UniProtKB:P78509-1, Asn-3029, MOD:00684.


name: nuclear receptor ROR-alpha B isoform 1 (zebrafish)

description: A nuclear receptor ROR-alpha B (zebrafish) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:F1QJF4-1.


name: ectonucleoside triphosphate diphosphohydrolase 3 isoform h2 (human)

description: An ectonucleoside triphosphate diphosphohydrolase 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75355-2.


name: TUSC1_MOUSE Tumor suppressor candidate gene 1 protein homolog (sprot)

description: A tumor suppressor candidate gene 1 protein that is encoded in the genome of mouse.


temporal lobe cancer

description: A cancer that involves the temporal lobe.


neoplasm of temporal lobe

description: A neoplasm (disease) that involves the temporal lobe.


septin-8 cysteinylated 1 (human)

A septin-8 (human) that has been cysteinylated on the residue at the position equivalent to Cys-153 of the amino acid sequence represented by UniProtKB:Q92599-1. Example: UniProtKB:Q92599-1, Cys-153, MOD:00765.


name: immunoglobulin heavy constant epsilon N-glycosylated 29 (human)

description: An immunoglobulin heavy constant epsilon (human) that has been N-glycosylated at the residue equivalent to Asn-99 of the amino acid sequence represented by UniProtKB:P01854-2, in which the glycan structure is represented by GlyTouCan:G65219TP. Example: UniProtKB:P01854-2, Asn-99, MOD:00160~GNO:G65219TP.


name: intermembrane lipid transfer protein VPS13C deaminated 7 (human)

description: An intermembrane lipid transfer protein VPS13C (human) that has been deaminated on the residue at the position equivalent to Asn-2428 of the amino acid sequence represented by UniProtKB:Q709C8-1. Example: UniProtKB:Q709C8-1, Asn-2428, MOD:00684.


cadherin-5 N-glycosylated 2 (human)

A cadherin-5 (human) that has been N-glycosylated at the residue equivalent to Asn-442 of the amino acid sequence represented by UniProtKB:P33151-1, in which the glycan composition is represented by GlyTouCan:G80475RE. Example: UniProtKB:P33151-1, Asn-442, MOD:00160~GNO:G80475RE.


LAC7_ARATH Laccase-7 (sprot)

A protein that is a translation product of the LAC7 gene in Arabidopsis thaliana.


name: low-density lipoprotein receptor-related protein 11 isoform h2 (human)

description: A low-density lipoprotein receptor-related protein 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86VZ4-2.


name: LRP11_HUMAN Low-density lipoprotein receptor-related protein 11 (sprot)

description: A low-density lipoprotein receptor-related protein 11 that is encoded in the genome of human.


name: low-density lipoprotein receptor-related protein 11 isoform h1 (human)

description: A low-density lipoprotein receptor-related protein 11 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86VZ4-1.


An amino disaccharide consisting of N-acetyl-6-O-methyl-beta-D-galactosamine having a beta-D-tyvelosyl residue attached at the 3-position and with the anomeric hydroxy group replaced by methoxy.


name: cAMP-dependent protein kinase inhibitor gamma isoform 1 (human)

description: A cAMP-dependent protein kinase inhibitor gamma isoform 1 that is encoded in the genome of human.


name: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

description: A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.


N,N-dihydroxytrihomomethionine

An N,N-dihydroxy-alpha-amino acid having a 6-thiaheptyl substituent at the 2-position.


N,N-dihydroxy-L-trihomomethionine

An N,N-dihydroxy-L-polyhomomethionine in which there are five methylene groups between the alpha-carbon and sulfur atoms.


name: TMCO1_RAT Calcium load-activated calcium channel (sprot)

description: A calcium load-activated calcium channel that is encoded in the genome of rat.


name: calcium load-activated calcium channel isoform 1 (rat)

description: A calcium load-activated calcium channel isoform 1 that is encoded in the genome of rat.


name: Metastatic malignant neoplasm to vertebral column

description: The spread of a malignant neoplasm to the spine.  This may be from a primary spinal malignant neoplasm, or from a malignant neoplasm at a distant site.


Metastatic malignant neoplasm to bone

description: Evidence of secondary malignant neoplasm of bone and bone marrow.


name: Prostate Carcinoma Metastatic in the Bone

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


Breast Carcinoma Metastatic in the Bone

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


name: Breast Carcinoma Metastatic in the Spine

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


name: Plasma Cell Myeloma-Induced Bone Disease

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


Lung Carcinoma Metastatic in the Bone

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


name: CHX9_ARATH Cation/H(+) antiporter 9 (sprot)

description: A protein that is a translation product of the CHX9 gene in Arabidopsis thaliana.


name: abnormal spindle-like microcephaly-associated protein cysteinylated 2 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-911 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-911, MOD:00765.


name: SUH_HUMAN Recombining binding protein suppressor of hairless (sprot)

description: A recombining binding protein suppressor of hairless that is encoded in the genome of human.


name: recombining binding protein suppressor of hairless

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


name: SUH_DROME Suppressor of hairless protein (sprot)

description: A recombining binding protein suppressor of hairless that is encoded in the genome of fruit fly.


name: recombining binding protein suppressor of hairless isoform h5 (human)

description: A recombining binding protein suppressor of hairless (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q06330-5.


name: recombining binding protein suppressor of hairless isoform m1 (mouse)

description: A recombining binding protein suppressor of hairless (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P31266-1.


name: recombining binding protein suppressor of hairless isoform 7 (human)

description: A recombining binding protein suppressor of hairless isoform 7 that is encoded in the genome of human.


name: SUH_MOUSE Recombining binding protein suppressor of hairless (sprot)

description: A recombining binding protein suppressor of hairless that is encoded in the genome of mouse.


name: recombining binding protein suppressor of hairless isoform hAPCR-1 (human)

description: A recombining binding protein suppressor of hairless (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q06330-2.


name: recombining binding protein suppressor of hairless isoform 7

description: A recombining binding protein suppressor of hairless that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q06330-7 or a 1:1 ortholog thereof.


name: recombining binding protein suppressor of hairless isoform 2 (mouse)

description: A recombining binding protein suppressor of hairless isoform 7 that is encoded in the genome of mouse.


name: recombining binding protein suppressor of hairless isoform h6 (human)

description: A recombining binding protein suppressor of hairless (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q06330-6.


name: recombining binding protein suppressor of hairless isoform hAPCR-3 (human)

description: A recombining binding protein suppressor of hairless (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q06330-3.


name: recombining binding protein suppressor of hairless phosphorylated 1 (human)

description: A recombining binding protein suppressor of hairless (human) that has been phosphorylated on the residue at the position equivalent to Thr-339 of the amino acid sequence represented by UniProtKB:Q06330-1. Example: UniProtKB:Q06330-1, Thr-339, MOD:00047.


name: recombining binding protein suppressor of hairless isoform hAPCR-2 (human)

description: A recombining binding protein suppressor of hairless (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q06330-1.


name: recombining binding protein suppressor of hairless isoform h4 (human)

description: A recombining binding protein suppressor of hairless (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q06330-4.


name: CDC42 small effector protein 2 isoform 1 (mouse)

description: A CDC42 small effector protein 2 isoform 1 that is encoded in the genome of mouse.


name: Major depressive disorder, single episode in full remission

description: Evidence of major depressive disorder that is a single episode and is in full remission.


name: Q5VJF5_RAT Glycoprotein hormone subunit beta 5 (trembl)

description: A glycoprotein hormone beta-5 that is encoded in the genome of rat.


tryptase beta-2 isoform Short (mouse)

A tryptase beta-2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21845-2.


Cobb's syndrome

description: A rare congenital but non-hereditary disorder characterized by angiomas or arteriovenous malformations of the spinal cord. Clinical signs include sudden onset of radicular pain localizable to a dermatome with overlying cutaneous vascular lesions. Untreated, the clinical course follows a progression of sensory loss, weakness to paralysis and incontinence. However, clinical prognosis improves with endovascular embolization and/or surgical excision of the spinal lesion.


Sotos syndrome

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


branchio-oto-renal syndrome

description: A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).


Pancoast syndrome

description: A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.


piriformis syndrome

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


name: Ectopic Chorionic Gonadotropin Secretion Syndrome

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


yellow nail syndrome

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


Waardenburg syndrome type 2

description: Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.


Twiddler's syndrome

description: Dislodgement, breakdown, or other malfunction of an artificial cardiac pacemaker, chemotherapy port, drip infusion valve, or similar implanted diagnostic or therapeutic device as a result of unconscious or habitual manipulation by the patient.


name: Combined Immunodeficiencies Associated with Syndromic Features

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


Microscopic enteritis

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


B cell deficiency

description: A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.


childhood myelodysplastic syndrome

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


Insulin resistance syndrome

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


synpolydactyly

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


name: Congenital Bone Marrow Failure Syndromes

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


name: hereditary breast ovarian cancer syndrome

description: An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.


name: Myelodysplastic Syndrome with Monoallelic TP53 Mutation

description: Myelodysplastic syndrome characterized by the presence of monoallelic TP53 gene mutation.


name: autosomal dominant familial periodic fever

description: A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.


Bernard-Soulier syndrome

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


Sifrim-Hitz-Weiss Syndrome

description: An autosomal dominant condition caused by mutation(s) in the CHD4 gene, encoding chromodomain helicase DNA binding protein 4. It is characterized by disordered intellectual development, with variable congenital defects.


BENTA disease

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


familial cold autoinflammatory syndrome

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


name: Familial Atypical Hemolytic Uremic Syndrome

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


Joubert syndrome 3

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


name: Severe Combined Immunodeficiency with Absence of T, B, and NK Cells

description: A severe combined immunodeficiency disorder that is associated with a lack of T, B, and NK cells.


name: Interferon Regulatory Factor 8 Deficiency

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


Dubowitz syndrome

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


immunoglobulin heavy chain deficiency

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


Behr syndrome

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


name: Myelodysplastic Syndrome with Genetic Abnormalities

description: Myelodysplastic syndrome characterized by the presence of defining genetic abnormalities.


diencephalic syndrome

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


name: Mental Retardation, Autosomal Dominant 18

description: An autosomal dominant neurodevelopmental syndrome caused by mutation(s) in the GATAD2B gene, encoding transcriptional repressor p66-beta. It is characterized by global developmental delay and intellectual impairment.


pseudopseudohypoparathyroidism

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


Allergy to penicillin

description: An allergy to Penicillin.


Diamond-Blackfan anemia 5

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


complete trisomy 18

description: Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.


AESOP Syndrome

description: An exceedingly rare syndrome characterized by adenopathy and a red-to-brown skin patch overlying a plasmacytoma.


Postnatal Drug Withdrawal

description: Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother.


Inherited Osteolysis Syndrome

description: A genetically heterogenous group of disorders characterized by loss of bone tissue.


STXBP2 Deficiency

description: A condition of decreased or absent presence of syntaxin-binding protein 2. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis type 5.


description: Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.


Fanconi anemia complementation group D1

description: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.


Gitelman syndrome

description: Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.


KSHV inflammatory cytokine syndrome

description: A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.


autoinflammatory syndrome

description: A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.


Weaver syndrome

description: Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.


oculocerebrorenal syndrome

description: Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.


mucopolysaccharidosis type 4A

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.


name: Myelodysplastic syndrome with low blasts (disorder)

description: Myelodysplastic syndrome characterized by the presence of less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


ataxia-pancytopenia syndrome

description: A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.


mosaic variegated aneuploidy syndrome

description: An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The condition is characterized by a predisposition to mitotic non-disjunction, resulting in a high percentage of aneuploid cells. The phenotype is variable and there is a predisposition to cancer.


Laurence-Moon syndrome

description: A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.


leukocyte adhesion deficiency 1

description: Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.


Radiation sickness syndrome

description: The complex of symptoms characterizing the disease known as radiation injury, resulting from excessive exposure (greater than 200 rads or 2 gray) of the whole body (or large part) to ionizing radiation. The earliest of these symptoms are nausea, fatigue, vomiting, and diarrhea, which may be followed by epilation, hemorrhage, inflammation of the mouth and throat, and general loss of energy. In severe cases, where the radiation exposure has been approximately 1000 Rad (10 gray) or more, death may occur within two to four weeks. Those who survive six weeks after the receipt of a single large dose of radiation to the whole body may generally be expected to recover. (U.S. Nuclear Regulatory Commission).


split hand-foot malformation 3

description: The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.


name: multicentric carpo-tarsal osteolysis with or without nephropathy

description: Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.


description: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.


PFAPA syndrome

description: An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

description: An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.


Osteootohepatoenteric Syndrome

description: An exceedingly rare autosomal recessive condition caused by mutation (s) in the UNC45A gene, encoding protein unc-45 homolog A. It is characterized neonatal cholestasis, deafness, and bone fragility.


description: A myelodysplastic syndrome resulting from chemotherapy or radiation therapy for cancer.


pseudohypoparathyroidism type 1A

description: A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).


Pearson syndrome

description: Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.


chromosome 18p deletion syndrome

description: Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.


name: hereditary benign intraepithelial dyskeratosis

description: A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.


description: Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).


Blau syndrome

description: Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.


name: ALG12-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).


Keipert syndrome

description: A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.


chromosome 18q deletion syndrome

description: A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.


triple-A syndrome

description: Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


Fanconi anemia complementation group B

description: Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.


Cerebellar stroke syndrome

description: An uncommon stroke syndrome caused by infarction of the cerebellum. Signs and symptoms may include vertigo and incoordination.


Endogenous Cushing Syndrome

description: Cushing syndrome that is caused by excessive production of cortisol by the adrenal gland.


name: Autoimmune Lymphoproliferative Syndrome with Germline FADD Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of germline FADD mutation.


name: Myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia

description: Myelodysplastic syndrome characterized by mutation of SF3B1 gene. There is bone marrow dysplasia typically in one or more hematopoietic cell lineages. There are less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


thalidomide embryopathy

description: A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.


mucopolysaccharidosis type 6

description: Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.


cauda equina syndrome

description: Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.


name: autoimmune lymphoproliferative syndrome type 1

description: A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but variable penetrance. It is the most common subtype of autoimmune lymphoproliferative syndrome (ALPS). It is usually caused by a germline mutation in the Fas gene that leads to defective Fas-induced apoptosis but in a minority of cases, it also may be attributed to a somatic Fas mutation. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.


orofaciodigital syndrome I

description: A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.


tooth and nail syndrome

description: Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.


Brainstem stroke syndrome

description: A stroke syndrome caused by infarction of the brainstem. Signs and symptoms may include vertigo, ataxia, diplopia, dysarthria and an altered level of consciousness.


long QT syndrome 12

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


description: Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.


tarsal tunnel syndrome

description: Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.


Ehlers-Danlos syndrome

description: The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.


name: Bilateral Diffuse Uveal Melanocytic Hyperplasia

description: A paraneoplastic syndrome characterized by diffuse proliferation of benign melanocytes in the uvea, in patients with an underlying extraocular malignancy. (WHO 2018)


von Hippel-Lindau disease

description: A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.


Bile Acid Synthesis Defect

description: A congenital or acquired defect in the bile acid biosynthesis, resulting in progressive liver disease.


Activated PI3K Delta Syndrome

description: A rare, autosomal dominant inherited primary immunodeficiency disorder caused by mutations in either PIK3CD gene or PIK3R1 gene. Clinical manifestations include the following: recurrent respiratory tract infections; non-malignant lymphoproliferation that results in generalized lymphadenopathy and hepatosplenomegaly; chronic infections with Epstein-Barr virus, cytomegalovirus, and herpes simplex virus; cytopenia; and glomerulonephritis. Patients are at an increased risk of developing non-Hodgkin or Hodgkin lymphoma.


neoplastic syndrome

description: A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.


name: Rhabdoid Tumor Predisposition Syndrome 2

description: Rhabdoid tumor predisposition syndrome caused by mutation(s) in the SMARCA4 gene, encoding transcription activator BRG1.


UV-sensitive syndrome 1

description: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.


Aicardi-Goutieres syndrome 5

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.


name: immunodeficiency 11b with atopic dermatitis

description: An autosomal dominant condition caused by mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by the onset of moderate to severe atopic dermatitis in early childhood, defects in T-cell activation, increased IgE, and eosinophilia.


Hair-thread tourniquet syndrome

description: A condition in which a hair or thread becomes wrapped around a digit obstructing blood flow.


name: autosomal dominant Kenny-Caffey syndrome

description: An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.


Posterior cord syndrome

description: A syndrome caused by insult to the posterior columns of the spinal cord and resulting in impairments of proprioception, vibration, and fine touch. Typical presenting signs and symptoms may include sensory ataxia, dizziness, unsteady gait, and frequent falls.


name: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

description: An autosomal dominant condition caused by mutation(s) in the NKX2-1 gene, encoding homeobox protein Nkx-2.1. It is characterized by choreoathetosis, congenital hypothyroidism, and pulmonary dysfunction.


X-linked retinoschisis

description: A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.


name: Autoimmune Lymphoproliferative Syndrome with Other Specified FAS Pathway Germline Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of FAS pathway germline mutations in the FASLG, CASP10, CASP8, and FADD genes.


congenital myasthenic syndrome 11

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.


Usher syndrome type 2C

description: A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.


hyper-IgM syndrome type 1

description: The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.


name: Mild Acute Respiratory Distress Syndrome

description: A form of acute respiratory distress syndrome (ARDS) that is marked by mild hypoxemia. Based on the Berlin criteria, onset must occur within one week of a clinical insult or there must be evidence of new or worsening respiratory symptoms. Chest imaging reveals bilateral opacities consistent with pulmonary edema that are not fully explained by effusions, lobar/lung collapse, or nodules. Respiratory failure is not fully explained by heart failure or fluid overload and objective assessment, e.g. echocardiography, is required to exclude hydrostatic edema if no risk factor is present. Additionally, oxygenation as measured by a partial pressure of arterial oxygen (PaO2) to the fraction of inspired oxygen (FIO2) is equivalent to between 200 and 300 mm Hg with positive end-expiratory pressure (PEEP) or continuous positive airway pressure (CPAP) of at least 5 cm of water (Ranieri VM et al., JAMA. 2012;307(23):2526-2533).


Cerebellar mutism

description: A syndrome, usually presenting after midline posterior fossa tumor resection, which is characterized by abnormalities of speech, behavioral or affective disturbances, and diffuse cerebellar dysfunction.


Carney-Stratakis syndrome

description: A rare, autosomal dominant inherited neoplastic syndrome caused by mutations in the genes that code the succinate dehydrogenase protein complex. It is charcaterized by the presence of gastrointestinal stromal tumors and paragangliomas.


Multiple endocrine neoplasia Type 2

description: Multiple endocrine neoplasia caused by mutation of the RET gene. It includes the following neoplastic processes: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and hereditary thyroid gland medullary carcinoma.


47,XYY syndrome

description: 47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.


Crigler-Najjar syndrome

description: Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.


TERC Deficiency

description: A condition of decreased or absent presence of telomerase RNA component. Deficiency of telomerase RNA component is associated with autosomal dominant dyskeratosis congenita 1, telomere-related pulmonary fibrosis, and bone marrow failure 2.


name: COVID-19–associated multisystem inflammatory syndrome in children

description: A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.


Freeman-Sheldon syndrome

description: A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.


Hallermann-Streiff syndrome

description: Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.


Renpenning syndrome

description: An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.


Chediak-Higashi syndrome

description: ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.


Cerebral hyperperfusion syndrome

description: Unexpected increase in cerebral blood flow after carotid endarterectomy or carotid artery stenting presenting with a clinical triad of ipsilateral headache, seizure and focal neurologic symptoms.